Allele Registry

Canonical Allele Identifier: PA254781

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000009986

RCV000058542

RCV000183020

RCV002504775

RCV003591626

RCV004532320

ClinVar Variation:

9388

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Ala997Ser	CA016718 NM_001099404.2:c.2989G>T