Canonical Allele Identifier: PA2828591411
Gene: CEP120 HGNC NCBI
ClinVar RCV:
RCV000515139
ClinVar Variation:
446144
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362335.1:p.Val194Ala
CA360893331
NM_001375406.1:c.581T>C