Allele Registry

Canonical Allele Identifier: PA341299

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000014570

RCV003764574

ClinVar Variation:

13600

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Ser39dup	CA341294 NM_002230.4:c.116_118dup