ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741968835
Gene: COQ8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2848335
ClinVar RCV Id:
RCV003693204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Lys350Glu
CA345053078
NM_020247.5:c.1048A>G