Allele Registry

Canonical Allele Identifier: PA2829713900

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

2145845

ClinVar RCV:

RCV003021319

ClinVar Variation:

2094397

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe114Val	CA390304689 NM_007318.3:c.340T>G