ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088843
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488568
ClinVar RCV Id:
RCV000578270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Ser152Leu
CA412393200
NM_001173456.2:c.455C>T