ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573293572
Gene: CEP89
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116205.3:p.Leu554Ser
CA9359215
NM_032816.5:c.1661T>C