Canonical Allele Identifier: PA317615
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206867
ClinVar RCV Id: RCV000189005 RCV000714534 RCV000714535 RCV003128153
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ala1823Val
CA317613
NM_006920.6:c.5468C>T