Allele Registry

Canonical Allele Identifier: PA916006911

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV000009393

RCV000084262

ClinVar Variation:

8845

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Asn141Ile	CA224953 NM_012486.3:c.422A>T