Allele Registry

Canonical Allele Identifier: PA150767

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000106293

RCV000625969

RCV003764803

ClinVar Variation:

120170

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu381Phe	CA150766 NM_000021.3:c.1141C>T