ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828591539
Gene: CEP120
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
439493
ClinVar RCV:
RCV000515151
ClinVar Variation:
446146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362335.1:p.Leu681Pro
CA360898838
NM_001375406.1:c.2042T>C