SynVar
Variant expansion and normalisation
Gene/Chromosome:
Variation:
Level:
Protein
Transcript/cDNA
Genome
dbSNP
ClinGen
Any
e.g. BRAF V600E, JAK2 V617F, NM_004333.6:c.1799T>A, rs113488022, CA123643, NM_000546.6:c.743delG, "The patient carries V600E in BRAF and c.181C>A in NRAS"
+
Advanced options
Isoforms
Optional genome mapping
Normalization only
Start Met ±1 shift
Ins synonyms for dup
Left-aligned synonyms
Output format:
XML
JSON
Expand and normalize
Documentation & API