ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088547
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000435734
ClinVar Variation:
388168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Val349Gly
CA16608807
NM_001173455.2:c.1046T>G