Allele Registry

Canonical Allele Identifier: PA2829714051

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019777

RCV000084329

ClinVar Variation:

18147

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu170Met	CA225050 NM_007318.3:c.508C>A