Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827677662

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201830

ClinVar RCV Id: RCV000183508 RCV000656182 RCV002399672

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339702.1:p.Glu258Gly	CA308561 NM_001352773.2:c.773A>G