Allele Registry

Canonical Allele Identifier: PA091146

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

33166

ClinVar RCV:

RCV000019755

RCV000084407

RCV000640605

ClinVar Variation:

18127

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Cys410Tyr	CA225174 NM_000021.3:c.1229G>A