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: PA2827683264

Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 1856

ClinVar RCV Id: RCV000001930

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339753.1:p.Asn252Asp	CA115238 NM_001352824.2:c.754A>G