Allele Registry

Canonical Allele Identifier: PA091158

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019752

RCV000084318

RCV000534810

RCV002490394

RCV003407347

ClinVar Variation:

18124

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.His163Arg	CA225034 NM_000021.3:c.488A>G