Allele Registry

Canonical Allele Identifier: PA225190

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084416

RCV002271337

ClinVar Variation:

98117

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr440del	CA225189 NM_000021.3:c.1318_1320del