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: PA2825943388

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 451392

ClinVar RCV Id: RCV000522530 RCV000812828

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153633.1:p.Glu295Lys	CA065839 NM_001160161.2:c.883G>A