ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580343455
Gene: CEP250
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009117.2:p.Arg436Gln
CA9832881
NM_007186.6:c.1307G>A