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: PA2827923003

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67817

ClinVar RCV Id: RCV000058592

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Leu1238Pro	CA017455 NM_001354701.2:c.3713T>C