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: PA2829713900

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094397

ClinVar RCV Id: RCV003021319

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe114Val	CA390304689 NM_007318.3:c.340T>G