ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645464518
Gene: COQ8B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079152.3:p.Arg78Cys
CA9450495
NM_024876.4:c.232C>T