Allele Registry

Canonical Allele Identifier: PA2827679092

Gene: JUP HGNC NCBI

ClinVar Allele:

1774698

ClinVar RCV:

RCV002303692

ClinVar Variation:

1719394

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Gln17Lys	CA399507207 NM_001352775.2:c.49C>A