Allele Registry

Canonical Allele Identifier: PA2825940786

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV003223783

ClinVar Variation:

2499691

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153632.1:p.Asp596Glu	CA352146158 NM_001160160.2:c.1788C>G CA352146160 NM_001160160.2:c.1788C>A