ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741843667
Gene: PDHA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Arg88Cys
CA412390594
NM_001173456.2:c.262C>T