ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089196
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212020
ClinVar RCV:
RCV000200467
RCV001079335
RCV002363013
ClinVar Variation:
214937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Lys356Gln
CA325044
NM_001173456.2:c.1066A>C