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: PA2826270663

Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 18089

ClinVar RCV Id: RCV000019715 RCV000815476 RCV002054452

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191231.1:p.Val680Phe	CA127792 NM_001204302.2:c.2038G>T