Allele Registry

Canonical Allele Identifier: PA916006934

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000009398

RCV000084266

ClinVar Variation:

8850

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Met239Ile	CA224958 NM_012486.3:c.717G>A CA345040704 NM_012486.3:c.717G>C CA345040705 NM_012486.3:c.717G>T