ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736418
Gene: COQ8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
804512
ClinVar RCV Id:
RCV000991503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Asn318del
CA1425243
NM_020247.5:c.952_954del