Allele Registry

Canonical Allele Identifier: PA2829714000

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019758

RCV000084317

ClinVar Variation:

18130

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.His159Tyr	CA225033 NM_007318.3:c.475C>T