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: PA2741981238

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2926646

ClinVar RCV Id: RCV003788884

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Pro713Leu	CA8565000 NM_021991.4:c.2138C>T