ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826089135
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291255
ClinVar RCV Id:
RCV000407596
RCV003225059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Ala318Thr
CA10607080
NM_001173456.2:c.952G>A