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: PA2827679914

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1508216

ClinVar RCV Id: RCV002013827

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Pro713Thr	CA399490620 NM_001352775.2:c.2137C>A