ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573276231
Gene: COQ8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1367563
ClinVar RCV Id:
RCV001932517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Arg416Cys
CA1425375
NM_020247.5:c.1246C>T