ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827681004
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1742961
ClinVar RCV Id:
RCV002330659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Val159Ala
CA399503649
NM_001352777.2:c.476T>C