Allele Registry

Canonical Allele Identifier: PA2829714341

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019785

RCV000517533

RCV000640606

ClinVar Variation:

18155

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala427Glu	CA341492 NM_007318.3:c.1280C>A