Canonical Allele Identifier: PA2827679918
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 3222008
ClinVar RCV Id: RCV004513426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Met716Arg
CA399490567
NM_001352775.2:c.2147T>G