ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580446189
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1777987
ClinVar RCV Id:
RCV002414566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Gly562Asp
CA399493150
NM_021991.4:c.1685G>A