Canonical Allele Identifier: PA308430
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 180375
ClinVar RCV Id: RCV000157250 RCV000223572 RCV000333556 RCV000474354 RCV000769491 RCV001094480 RCV001719985 RCV002381507
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068831.1:p.Val456Ile
CA308426
NM_021991.4:c.1366G>A