ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580157953
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2000808
ClinVar RCV Id:
RCV002810656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Cys256Tyr
CA412394454
NM_001173454.2:c.767G>A