Canonical Allele Identifier: PA2827681238
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 155802
ClinVar RCV Id: RCV000143904 RCV000183495 RCV000278374 RCV000335744 RCV000767065 RCV000705144 RCV002390299
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Lys345Asn
CA308511
NM_001352777.2:c.1035G>C
CA399499263
NM_001352777.2:c.1035G>T