Allele Registry

Canonical Allele Identifier: PA916006930

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV001755770

RCV001857923

RCV002490889

ClinVar Variation:

448151

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Leu238Phe	CA1424616 NM_012486.3:c.712C>T