Allele Registry

Canonical Allele Identifier: PA3057348867

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV004722018

ClinVar Variation:

3340736

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ser166Pro	CA390296085 NM_007318.3:c.496T>C