Allele Registry

Canonical Allele Identifier: PA145122

Gene: SCN5A HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 66.6

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000058723

RCV000519341

RCV001258072

RCV001530198

RCV001787861

RCV002336214

RCV003450919

RCV003591672

RCV003996546

ClinVar Variation:

67939

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Arg1631His	CA018735 NM_000335.5:c.4892G>A