Allele Registry

Canonical Allele Identifier: PA225130

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019782

RCV000084379

RCV002513126

ClinVar Variation:

18152

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg278Ile	CA225129 NM_000021.3:c.833G>T