ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993032
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_001166925.1:p.Arg340His
CA16621292
NM_001173454.2:c.1019G>A