Canonical Allele Identifier: PA2827680136
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 468754
ClinVar RCV Id: RCV000542692 RCV000996541 RCV003479157 RCV002330914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Val159Leu
CA8565461
NM_001352776.2:c.475G>T
CA399503654
NM_001352776.2:c.475G>C