Canonical Allele Identifier: PA308514
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 155802
ClinVar RCV Id: RCV000143904 RCV000183495 RCV000278374 RCV000335744 RCV000767065 RCV000705144 RCV002390299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Lys345Asn
CA308511
NM_002230.4:c.1035G>C
CA399499263
NM_002230.4:c.1035G>T