ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916049534
Gene: CEP295
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203753.1:p.Leu1459Arg
CA6230668
NM_033395.2:c.4376T>G