ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499293099
Gene: CEP78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115547.1:p.Cys158Phe
CA5094924
NM_032171.2:c.473G>T