Allele Registry

Canonical Allele Identifier: PA2829714210

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019762

RCV000084371

ClinVar Variation:

18133

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Pro263Ser	CA225118 NM_007318.3:c.787C>T