ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499246863
Gene: COX18
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287658.1:p.Arg305His
CA2957424
NM_001300729.1:c.914G>A