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: PA2825140314

Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303026

ClinVar RCV Id: RCV001756525

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Gly291Arg	CA412395220 NM_000284.4:c.871G>A CA412395221 NM_000284.4:c.871G>C