Allele Registry

Canonical Allele Identifier: PA891844691

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000712869

ClinVar Variation:

586382

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu381Ile	CA390305717 NM_000021.3:c.1141C>A