ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826953150
Gene: PDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13188
ClinVar RCV Id:
RCV000014076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001302465.1:p.Tyr114Cys
CA122948
NM_001315536.2:c.341A>G