ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250022
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_056512.5:p.Arg197His
CA250021
NM_015697.9:c.590G>A