ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825799174
Gene: COQ8B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000077756
ClinVar Variation:
91848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136027.1:p.Arg279Trp
CA145475
NM_001142555.3:c.835C>T