Allele Registry

Canonical Allele Identifier: PA2829714344

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019771

RCV000084588

ClinVar Variation:

18141

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala430Cys	CA225525 NM_007318.3:c.1288_1289delinsTG