Allele Registry

Canonical Allele Identifier: PA2829714029

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084324

ClinVar Variation:

98040

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ser165Pro	CA225044 NM_007318.3:c.493T>C