ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992916
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
439032
ClinVar RCV:
RCV000513883
RCV001082627
ClinVar Variation:
445760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Ala174Thr
CA10363031
NM_001173454.2:c.520G>A