ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250026
Gene: COQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056512.5:p.Ser146Asn
NM_015697.9:c.437G>A