Allele Registry

Canonical Allele Identifier: PA2580446043

Gene: JUP HGNC NCBI

ClinVar Allele:

1774698

ClinVar RCV:

RCV002303692

ClinVar Variation:

1719394

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Gln17Lys	CA399507207 NM_021991.4:c.49C>A