ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826087697
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214938
ClinVar RCV Id:
RCV000505722
RCV000624128
RCV000692713
RCV001814100
RCV001796727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Arg110Cys
CA320653
NM_001173454.2:c.328C>T