ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230036
Gene: PDHX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003468.2:p.Glu230Lys
CA5945962
NM_003477.3:c.688G>A