ClinGen Allele Registry
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Canonical Allele Identifier:
PA915979031
Gene: COQ8B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416394
ClinVar Variation:
375335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136027.1:p.Thr278dup
CA16044194
NM_001142555.3:c.831_833dup