Canonical Allele Identifier: PA2827677948
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 409986
ClinVar RCV Id: RCV000460636
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339702.1:p.Gln519Leu
CA16615741
NM_001352773.2:c.1556A>T