Allele Registry

Canonical Allele Identifier: PA2829714007

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001092311

ClinVar Variation:

872050

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Trp161Leu	CA390295964 NM_007318.3:c.482G>T