Allele Registry

Canonical Allele Identifier: PA2829713998

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019752

RCV000084318

RCV000534810

RCV002490394

RCV003407347

ClinVar Variation:

18124

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.His159Arg	CA225034 NM_007318.3:c.476A>G