Allele Registry

Canonical Allele Identifier: PA249701

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000009984

RCV000058427

ClinVar Variation:

9386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Gly514Cys	CA014960 NM_001099404.2:c.1540G>T