Allele Registry

Canonical Allele Identifier: PA2580102239

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV002917221

ClinVar Variation:

2042091

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr291Ala	CA390304682 NM_000021.3:c.871A>G