Allele Registry

Canonical Allele Identifier: PA2825177054

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV001358553

RCV002070239

RCV002246336

ClinVar Variation:

1050746

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Val214Leu	CA1424605 NM_000447.3:c.640G>T CA345040391 NM_000447.3:c.640G>C