Canonical Allele Identifier: PA2827783539
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1061998
ClinVar RCV Id: RCV001371666

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Ser1587Pro
CA349071257
NM_001353957.2:c.4759T>C