Allele Registry

Canonical Allele Identifier: PA2829713832

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001757375

ClinVar Variation:

1315928

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Thr70Ile	CA390303037 NM_007318.3:c.209C>T