Allele Registry

Canonical Allele Identifier: PA091182

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019751

RCV000084310

RCV001248367

RCV002247483

RCV003105774

ClinVar Variation:

18123

98028

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met146Leu	CA225022 NM_000021.3:c.436A>T CA341490 NM_000021.3:c.436A>C