Canonical Allele Identifier: PA2827681517
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 180376
ClinVar RCV Id: RCV000157251 RCV000645215 RCV001124648 RCV001124649 RCV002408705 RCV001719986 RCV003149960 RCV003965172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Val603Leu
CA308581
NM_001352777.2:c.1807G>T
CA399492561
NM_001352777.2:c.1807G>C