ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658830519
Gene: COQ8B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079152.3:p.Arg63Trp
CA9450523
NM_024876.4:c.187C>T