ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580199450
Gene: CEP250
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305148.1:p.Val438Ile
CA408742540
NM_001318219.1:c.1312G>A