Allele Registry

Canonical Allele Identifier: PA2829713899

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

103909

ClinVar RCV:

RCV000084297

RCV002514494

ClinVar Variation:

98017

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Pro113Ser	CA225005 NM_007318.3:c.337C>T