Canonical Allele Identifier: PA308469
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201812
ClinVar RCV Id: RCV000321164 RCV000378103 RCV000541609 RCV000588554 RCV001175368 RCV002336467 RCV003416106
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Ser170Leu
CA308466
NM_002230.4:c.509C>T