ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916066563
Gene: CEP192
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115518.3:p.Pro1159Arg
CA8899921
NM_032142.4:c.3476C>G