Canonical Allele Identifier: PA237238
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 191676
ClinVar RCV Id: RCV000171964 RCV000678710 RCV000705755 RCV002453594
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Glu118Lys
CA237235
NM_002230.4:c.352G>A