Allele Registry

Canonical Allele Identifier: PA091140

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000031858

RCV000084374

RCV000689465

ClinVar Variation:

38297

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg269His	CA225122 NM_000021.3:c.806G>A