Allele Registry

Canonical Allele Identifier: PA645505725

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000424008

RCV003442712

ClinVar Variation:

389297

2663524

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Phe1473Leu	CA16604466 NM_198056.3:c.4417T>C CA352145251 NM_198056.3:c.4419C>G CA352145252 NM_198056.3:c.4419C>A