ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092761
Gene: COQ8B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000077757
ClinVar Variation:
91849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079152.3:p.Arg343Trp
CA145476
NM_024876.4:c.1027C>T