Allele Registry

Canonical Allele Identifier: PA2829714212

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000516919

RCV003480665

ClinVar Variation:

448146

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Pro263Ala	CA390301959 NM_007318.3:c.787C>G