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: PA2825944616

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 242195

ClinVar RCV Id: RCV000231106

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153633.1:p.Gly1117Asp	CA10582192 NM_001160161.2:c.3350G>A