ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827678003
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1778248
ClinVar RCV Id:
RCV002414666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Ala566Gly
CA399493063
NM_001352773.2:c.1697C>G