Canonical Allele Identifier: PA2829368127
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1417055

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Met76Ile
CA8565544
NM_002230.4:c.228G>A
CA399506036
NM_002230.4:c.228G>T
CA399506038
NM_002230.4:c.228G>C