ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580441400
Gene: COQ8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2243320
ClinVar RCV Id:
RCV002737618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Ile395Met
CA1425352
NM_020247.5:c.1185C>G