Canonical Allele Identifier: PA2827677356
Gene: JUP HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339702.1:p.Gln17Lys
CA399507207
NM_001352773.2:c.49C>A