ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828591280
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_001362334.1:p.Leu726Pro
CA360898838
NM_001375405.1:c.2177T>C