Allele Registry

Canonical Allele Identifier: PA224952

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000009400

RCV000009401

RCV000084261

RCV000172588

RCV001642203

RCV003934816

ClinVar Variation:

8852

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Ser130Leu	CA224951 NM_000447.3:c.389C>T