ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827680246
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1757477
ClinVar RCV Id:
RCV002378396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Val239Ala
CA399501792
NM_001352776.2:c.716T>C