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: PA2827677710

Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 855662

ClinVar RCV Id: RCV001060976 RCV002445322

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339702.1:p.Leu295Pro	CA399500634 NM_001352773.2:c.884T>C