Canonical Allele Identifier: PA645460392
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 409986
ClinVar RCV Id: RCV000460636

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068831.1:p.Gln519Leu
CA16615741
NM_021991.4:c.1556A>T