Canonical Allele Identifier: PA137196
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 45847
ClinVar RCV Id: RCV000039078 RCV000157253 RCV000463617 RCV000621167 RCV000757414 RCV001124559 RCV001123480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Pro736Leu
CA137193
NM_002230.4:c.2207C>T