ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454203
Gene: PDHA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Leu252Val
CA412394691
NM_000284.4:c.754C>G