ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993181
Gene: PDHB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014076
ClinVar Variation:
13188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166939.1:p.Tyr132Cys
CA122948
NM_001173468.2:c.395A>G