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: PA2826907805

Gene: CAD HGNC NCBI

Linked Data

ClinVar Variation Id: 1431248

ClinVar RCV Id: RCV001972020

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001293008.1:p.Lys778Asn	CA1573038 NM_001306079.2:c.2334G>T CA346211551 NM_001306079.2:c.2334G>C