Allele Registry

Canonical Allele Identifier: PA224962

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000009396

RCV000084268

ClinVar Variation:

8848

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Thr430Met	CA224961 NM_000447.3:c.1289C>T