ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089179
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_001166927.1:p.Arg347His
CA121205
NM_001173456.2:c.1040G>A