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: PA1139690448

Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 935969

ClinVar RCV Id: RCV001204675

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Arg326Cys	CA412395201 NM_001173454.2:c.976C>T