ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088635
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214937
ClinVar RCV Id:
RCV000200467
RCV001079335
RCV002363013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Lys394Gln
CA325044
NM_001173455.2:c.1180A>C