Allele Registry

Canonical Allele Identifier: PA2499288644

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001293223

ClinVar Variation:

978764

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Trp329Leu	CA399499469 NM_021991.4:c.986G>T