Canonical Allele Identifier: PA317334
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206792
ClinVar RCV Id: RCV001042079 RCV001356386 RCV002314752
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Met976Leu
CA317331
NM_001165963.4:c.2926A>C
CA349060802
NM_001165963.4:c.2926A>T