ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089045
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419850
ClinVar RCV Id:
RCV000481593
RCV001216859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Arg271His
CA16621292
NM_001173456.2:c.812G>A