Allele Registry

Canonical Allele Identifier: PA2829714301

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000712869

ClinVar Variation:

586382

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu377Ile	CA390305717 NM_007318.3:c.1129C>A