Canonical Allele Identifier: PA2827681489
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1778853
ClinVar RCV Id: RCV003097180 RCV002399117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Met575Ile
CA399492943
NM_001352777.2:c.1725G>T
CA399492945
NM_001352777.2:c.1725G>C
CA399492947
NM_001352777.2:c.1725G>A