Allele Registry

Canonical Allele Identifier: PA2829714324

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

104001

ClinVar RCV:

RCV000084406

RCV000811198

ClinVar Variation:

98109

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala405Thr	CA225173 NM_007318.3:c.1213G>A