ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828278364
Gene: CEP83
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381892
ClinVar RCV Id:
RCV001035539
RCV000434526
RCV003983042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354967.1:p.Asp373Val
CA6721749
NM_001368038.1:c.1118A>T