Allele Registry

Canonical Allele Identifier: PA2827923792

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000058763

RCV000515650

ClinVar Variation:

67977

446418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Met1747Leu	CA019076 NM_001354701.2:c.5239A>C CA352141606 NM_001354701.2:c.5239A>T