Allele Registry

Canonical Allele Identifier: PA091189

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019762

RCV000084371

ClinVar Variation:

18133

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Pro267Ser	CA225118 NM_000021.3:c.799C>T