Allele Registry

Canonical Allele Identifier: PA2829714319

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084404

RCV002513900

ClinVar Variation:

98107

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Gly390Val	CA225170 NM_007318.3:c.1169G>T