Allele Registry

Canonical Allele Identifier: PA2829714252

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV002917221

ClinVar Variation:

2042091

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Thr287Ala	CA390304682 NM_007318.3:c.859A>G