Allele Registry

Canonical Allele Identifier: PA091150

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019759

RCV000701892

ClinVar Variation:

18131

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Glu280Ala	CA341491 NM_000021.3:c.839A>C