Canonical Allele Identifier: PA2826259182
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68598
ClinVar RCV Id: RCV000059475 RCV000188897 RCV000636409 RCV004542733
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Arg931Cys
CA273369
NM_001202435.3:c.2791C>T