Allele Registry

Canonical Allele Identifier: PA225146

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084390

RCV000172776

RCV000242303

RCV000290884

RCV000382419

RCV000559984

ClinVar Variation:

98094

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Glu318Gly	CA225145 NM_000021.3:c.953A>G