ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827678823
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2933172
ClinVar RCV Id:
RCV003790290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Pro525Leu
CA8565188
NM_001352774.2:c.1574C>T