ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825799116
Gene: COQ8B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1706166
ClinVar RCV Id:
RCV002284696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136027.1:p.Val193Glu
CA405963852
NM_001142555.3:c.578T>A