Canonical Allele Identifier: PA2827680072
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1709581
ClinVar RCV Id: RCV002289396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Thr104Ser
CA399505528
NM_001352776.2:c.311C>G
CA399505532
NM_001352776.2:c.310A>T