ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089202
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000195575
RCV001853190
RCV002354555
ClinVar Variation:
214947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Ser357Ter
CA319929
NM_001173456.2:c.1066_1069dup