Canonical Allele Identifier: PA2827680132
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 263731
ClinVar RCV Id: RCV000249943 RCV001036469 RCV001127939 RCV001127940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Pro156Leu
CA8565489
NM_001352776.2:c.467C>T