ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992959
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521416
ClinVar RCV Id:
RCV000623785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Glu244Gln
CA412394283
NM_001173454.2:c.730G>C