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: PA2827680783

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1354687

ClinVar RCV Id: RCV001887852

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Leu714Pro	CA399490603 NM_001352776.2:c.2141T>C