ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828591539
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_001362335.1:p.Leu681Pro
CA360898838
NM_001375406.1:c.2042T>C