ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089047
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10879
ClinVar RCV Id:
RCV000011626
RCV000199671
RCV000622696
RCV003407316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Arg271Cys
CA121214
NM_001173456.2:c.811C>T