Allele Registry

Canonical Allele Identifier: PA658673823

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000516919

RCV003480665

ClinVar Variation:

448146

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Pro267Ala	CA390301959 NM_000021.3:c.799C>G