Canonical Allele Identifier: PA2826259283
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206792
ClinVar RCV Id: RCV001042079 RCV001356386 RCV002314752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Met976Leu
CA317331
NM_001202435.3:c.2926A>C
CA349060802
NM_001202435.3:c.2926A>T