Canonical Allele Identifier: PA2827680631
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 228755
ClinVar RCV Id: RCV000223497 RCV000291109 RCV001319509 RCV004020621 RCV000339154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Thr585Ala
CA8565141
NM_001352776.2:c.1753A>G