Canonical Allele Identifier: PA2827788517
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190016
ClinVar RCV Id: RCV000180972 RCV002515213
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Gly950Glu
CA303559
NM_001353960.2:c.2849G>A