Allele Registry

Canonical Allele Identifier: PA2827679960

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV002303692

ClinVar Variation:

1719394

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Gln17Lys	CA399507207 NM_001352776.2:c.49C>A