Canonical Allele Identifier: PA2827679812
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201829
ClinVar RCV Id: RCV000183506 RCV001852358 RCV003298239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Ser627Leu
CA308556
NM_001352775.2:c.1880C>T