ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827680887
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1779975
ClinVar RCV Id:
RCV002404074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Thr60_Thr62del
CA2576269043
NM_001352777.2:c.178_186del