Canonical Allele Identifier: PA2827777721
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68648
ClinVar RCV Id: RCV000059528 RCV001854246 RCV003992176
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Ala1673Val
CA266120
NM_001353954.2:c.5018C>T