ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088609
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214936
ClinVar RCV Id:
RCV000198575
RCV000497402
RCV001788065
RCV001796726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Arg385Cys
CA323094
NM_001173455.2:c.1153C>T