Allele Registry

Canonical Allele Identifier: PA2825497199

Gene: SCN5A HGNC NCBI

ClinVar RCV:

RCV000041628

RCV000058787

RCV000245837

RCV000622807

RCV001507623

RCV001841611

ClinVar Variation:

48308

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Gln1814Glu	CA019294 NM_001099405.2:c.5440C>G