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: PA2825492950

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 853023

ClinVar RCV Id: RCV003656337

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Arg383Lys	CA352149124 NM_001099405.2:c.1148G>A