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: PA2825943027

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 572830

ClinVar RCV Id: RCV000694314

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153633.1:p.Gly35Asp	CA72951833 NM_001160161.2:c.104G>A