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: PA2825128285

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 3229481

ClinVar RCV Id: RCV004525059

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Pro79Ser	CA060252 NM_000335.5:c.235C>T