ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089049
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
689626
ClinVar RCV Id:
RCV000850376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Thr272Ala
CA412396037
NM_001173456.2:c.814A>G