Allele Registry

Canonical Allele Identifier: PA224949

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000009402

RCV000084259

ClinVar Variation:

8853

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Ala85Val	CA224948 NM_000447.3:c.254C>T