ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992919
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202188
ClinVar RCV Id:
RCV000184034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Arg179Gln
CA203852
NM_001173454.2:c.536G>A