ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088221
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445760
ClinVar RCV Id:
RCV000513883
RCV001082627
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Ala143Thr
CA10363031
NM_001173455.2:c.427G>A