Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA265919

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68039

ClinVar RCV Id: RCV000058842 RCV000182946 RCV001842411 RCV003162462

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Val240Met	CA019765 NM_000335.5:c.718G>A