Canonical Allele Identifier: PA2827680119
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201811
ClinVar RCV Id: RCV000183485 RCV000471931 RCV000786327 RCV002326992 RCV003150061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Ala143Thr
CA308461
NM_001352776.2:c.427G>A