ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826613470
Gene: CEP43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
786767
ClinVar RCV Id:
RCV000968880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265619.1:p.Ala230Pro
CA4095547
NM_001278690.2:c.688G>C