ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580455266
Gene: COQ8B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1921318
ClinVar RCV Id:
RCV002608786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079152.3:p.Ala216Val
CA405964127
NM_024876.4:c.647C>T