Canonical Allele Identifier: PA2827680942
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1709581
ClinVar RCV Id: RCV002289396

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Thr104Ser
CA399505528
NM_001352777.2:c.311C>G
CA399505532
NM_001352777.2:c.310A>T