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: PA2825945227

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67917

ClinVar RCV Id: RCV000058698 RCV003541165

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153633.1:p.Phe1517Cys	CA018496 NM_001160161.2:c.4550T>G