Allele Registry

Canonical Allele Identifier: PA091135

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

104001

ClinVar RCV:

RCV000084406

RCV000811198

ClinVar Variation:

98109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ala409Thr	CA225173 NM_000021.3:c.1225G>A