ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573254231
Gene: CEP250
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009117.2:p.Ala384Thr
CA9832825
NM_007186.6:c.1150G>A