Allele Registry

Canonical Allele Identifier: PA225169

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000020082

RCV000084403

RCV002514122

ClinVar Variation:

21026

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu392Pro	CA225168 NM_000021.3:c.1175T>C