ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828057558
Gene: COQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001503
RCV000416395
RCV001550184
RCV002504734
ClinVar Variation:
1438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001345850.1:p.Arg147His
CA250021
NM_001358921.2:c.440G>A