ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827677536
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1450398
ClinVar RCV Id:
RCV002004836
RCV002334966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Ala162Ser
CA399503612
NM_001352773.2:c.484G>T