Allele Registry

Canonical Allele Identifier: PA091132

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019753

RCV000084361

RCV000542870

ClinVar Variation:

18125

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ala246Glu	CA225104 NM_000021.3:c.737C>A