Allele Registry

Canonical Allele Identifier: PA2829714326

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

33166

ClinVar RCV:

RCV000019755

RCV000084407

RCV000640605

ClinVar Variation:

18127

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Cys406Tyr	CA225174 NM_007318.3:c.1217G>A