Canonical Allele Identifier: PA2827763298
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206933
ClinVar RCV Id: RCV000189077 RCV001255357 RCV001857651 RCV001253376
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Gly329Cys
CA317771
NM_001353950.2:c.985G>T