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: PA2827923590

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1188516

ClinVar RCV Id: RCV001548332

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Arg1619Leu	CA352142977 NM_001354701.2:c.4856G>T