ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573293566
Gene: CEP89
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116205.3:p.Ile347Met
CA9359433
NM_032816.5:c.1041T>G