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: PA2827678530

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201830

ClinVar RCV Id: RCV000183508 RCV000656182 RCV002399672

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Glu258Gly	CA308561 NM_001352774.2:c.773A>G