ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828096143
Gene: CEP126
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004141838
ClinVar Variation:
2289833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350472.1:p.Val482Ile
CA382452987
NM_001363543.2:c.1444G>A