Canonical Allele Identifier: PA2829368221
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 640516
ClinVar RCV Id: RCV000793558
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Asp135His
CA399505033
NM_002230.4:c.403G>C