ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116408
Gene: COQ8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003829
RCV000199676
ClinVar Variation:
3644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Thr584del
CA116407
NM_020247.5:c.1750_1752del