ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580455370
Gene: COQ8B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002650322
ClinVar Variation:
1940044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079152.3:p.Glu483Lys
CA9449999
NM_024876.4:c.1447G>A