ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825799123
Gene: COQ8B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1190090
ClinVar RCV Id:
RCV001550671
RCV003151339
RCV003948584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136027.1:p.Val195Met
CA9450326
NM_001142555.3:c.583G>A