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: PA2825495342

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2774457

ClinVar RCV Id: RCV003592340

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Pro1164Thr	CA352138363 NM_001099405.2:c.3490C>A