Allele Registry

Canonical Allele Identifier: PA2829714216

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000031858

RCV000084374

RCV000689465

ClinVar Variation:

38297

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Arg265His	CA225122 NM_007318.3:c.794G>A