Allele Registry

Canonical Allele Identifier: PA091159

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019758

RCV000084317

ClinVar Variation:

18130

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.His163Tyr	CA225033 NM_000021.3:c.487C>T