ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829369290
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468749
ClinVar RCV Id:
RCV000535229
RCV001764577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Pro710Ser
CA8565002
NM_002230.4:c.2128C>T