ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA302974
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000178069
ClinVar Variation:
197128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Leu104Pro
CA302973
NM_000284.4:c.311T>C