Allele Registry

Canonical Allele Identifier: PA2580102198

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV002474390

ClinVar Variation:

1806961

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu166Phe	CA390295991 NM_000021.3:c.496C>T