Allele Registry

Canonical Allele Identifier: PA225526

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019771

RCV000084588

ClinVar Variation:

18141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ala434Cys	CA225525 NM_000021.3:c.1300_1301delinsTG