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: PA091187

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98018

ClinVar RCV Id: RCV000084298 RCV002272062

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000012.1:p.Pro117Leu