ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573280755
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1401540
ClinVar RCV Id:
RCV001912927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Cys563Tyr
CA8565151
NM_021991.4:c.1688G>A