Canonical Allele Identifier: PA2827680763
Gene: JUP HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Thr700Ile
CA399490769
NM_001352776.2:c.2099C>T