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: PA915965618

Gene: HPGD HGNC NCBI

Linked Data

ClinVar Variation Id: 731352

ClinVar RCV Id: RCV000906296

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000851.2:p.Asp221Val	CA3142197 NM_000860.6:c.662A>T