Allele Registry

Canonical Allele Identifier: PA3057584288

Gene: PSEN2 HGNC NCBI

ClinVar Allele:

3398585

ClinVar RCV:

RCV004576081

ClinVar Variation:

3239595

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Pro123Leu	CA345329957 NM_012486.3:c.368C>T