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: PA2826088876

Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281060

ClinVar RCV Id: RCV000292563

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Trp183Arg	CA10603797 NM_001173456.2:c.547T>C CA412394394 NM_001173456.2:c.547T>A