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: PA2825489571

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 917997

ClinVar RCV Id: RCV001175242

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Arg1306Ser	CA352148145 NM_001099404.2:c.3916C>A