Allele Registry

Canonical Allele Identifier: PA2829714018

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV002474390

ClinVar Variation:

1806961

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu162Phe	CA390295991 NM_007318.3:c.484C>T