Canonical Allele Identifier: PA2828591863
Gene: CEP120 HGNC NCBI
ClinVar RCV:
RCV000515139
ClinVar Variation:
446144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362337.1:p.Val3Ala
CA360893331
NM_001375408.1:c.8T>C