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: PA2826089196

Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214937

ClinVar RCV Id: RCV000200467 RCV001079335 RCV002363013

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Lys356Gln	CA325044 NM_001173456.2:c.1066A>C