Allele Registry

Canonical Allele Identifier: PA2829714071

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084336

RCV001857411

ClinVar Variation:

98049

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Glu180Asp	CA225063 NM_007318.3:c.540A>C CA390298887 NM_007318.3:c.540A>T