ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573276139
Gene: COQ8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421716
ClinVar RCV Id:
RCV001943865
RCV002558427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Val248Met
CA1425143
NM_020247.5:c.742G>A