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: PA2573235102

Gene: CAD HGNC NCBI

Linked Data

ClinVar Variation Id: 1377927

ClinVar RCV Id: RCV001880902

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004332.2:p.Ile844Val	CA346211574 NM_004341.4:c.2530A>G