ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825533882
Gene: CEP78
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092272.1:p.Cys158Phe
CA5094924
NM_001098802.3:c.473G>T