Allele Registry

Canonical Allele Identifier: PA307728

Gene: SCN5A HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 95.4

Linked Data - NCBI & NCI

ClinVar Allele:

78826

ClinVar RCV:

RCV000058718

RCV000183089

RCV000252940

RCV000779405

RCV001842372

ClinVar Variation:

67934

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Arg1625His	CA018698 NM_000335.5:c.4874G>A