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: PA2825942864

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 3069459

ClinVar RCV Id: RCV004008003

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153632.1:p.Ser1933Pro	CA352139533 NM_001160160.2:c.5797T>C