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: PA2827679925

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1786838

ClinVar RCV Id: RCV002417878 RCV003101093

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Met720Val	CA8564995 NM_001352775.2:c.2158A>G