ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088808
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
871395
ClinVar RCV Id:
RCV001091315
RCV001542509
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Arg127Gln
CA412391206
NM_001173456.2:c.380G>A