Allele Registry

Canonical Allele Identifier: PA916006912

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000084263

RCV002513895

ClinVar Variation:

97996

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Val148Ile	CA224954 NM_012486.3:c.442G>A