Allele Registry

Canonical Allele Identifier: PA330221

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000058763

RCV000515650

ClinVar Variation:

67977

446418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Met1766Leu	CA019076 NM_001099404.2:c.5296A>C CA352141606 NM_001099404.2:c.5296A>T