ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827678872
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000645199
ClinVar Variation:
201826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.His568Tyr
CA308541
NM_001352774.2:c.1702C>T