Canonical Allele Identifier: PA2827679822
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 179915
ClinVar RCV Id: RCV000156716 RCV000766385 RCV001068833 RCV003162646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg637Cys
CA185419
NM_001352775.2:c.1909C>T