Allele Registry

Canonical Allele Identifier: PA916006913

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000478457

RCV000736268

RCV001865487

ClinVar Variation:

424013

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Val150Met	CA16617077 NM_012486.3:c.448G>A