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: PA2827680274

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 212751

ClinVar RCV Id: RCV000194635 RCV001853126 RCV002415828

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Arg265His	CA208935 NM_001352776.2:c.794G>A