Canonical Allele Identifier: PA2827679959
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 3222010
ClinVar RCV Id: RCV004513428

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Lys12Asn
CA399507264
NM_001352776.2:c.36G>T
CA399507266
NM_001352776.2:c.36G>C