ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139690372
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214940
ClinVar RCV Id:
RCV001091314
RCV001731151
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Arg165Trp
CA321249
NM_001173454.2:c.493C>T