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: PA2827683250

Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 158409

ClinVar RCV Id: RCV000145790 RCV000513008 RCV003945167

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339753.1:p.Ala233Thr	CA171822 NM_001352824.2:c.697G>A