ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230042
Gene: PDHX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001903613
ClinVar Variation:
1405184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003468.2:p.Gln248Glu
CA220466391
NM_003477.3:c.742C>G