ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830407972
Gene: COQ6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416384
RCV002521492
ClinVar Variation:
375343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_872286.2:p.Tyr387Cys
CA7264486
NM_182480.3:c.1160A>G