Allele Registry

Canonical Allele Identifier: PA2829714032

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019788

RCV000084326

ClinVar Variation:

18158

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ser166Phe	CA225046 NM_007318.3:c.497C>T