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: PA2825496463

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67919

ClinVar RCV Id: RCV000058700

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Leu1564Pro	CA018511 NM_001099405.2:c.4691T>C