ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828278096
Gene: CEP83
HGNC
NCBI
Linked Data
ClinVar Variation Id:
139544
ClinVar RCV Id:
RCV000128443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354966.1:p.Arg511Pro
CA163253
NM_001368037.1:c.1532G>C