ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826027428
Gene: CEP120
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446146
ClinVar RCV Id:
RCV000515151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159698.1:p.Leu700Pro
CA360898838
NM_001166226.2:c.2099T>C