ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107521
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10873
ClinVar RCV Id:
RCV000011620
RCV001267918
RCV002251895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Arg378His
CA121205
NM_000284.4:c.1133G>A