ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828591816
Gene: CEP120
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000515151
ClinVar Variation:
446146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362336.1:p.Leu726Pro
CA360898838
NM_001375407.1:c.2177T>C