ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993114
Gene: PDHA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Arg72Cys
CA320653
NM_001173456.2:c.214C>T