Allele Registry

Canonical Allele Identifier: PA091183

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019757

ClinVar Variation:

18129

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met146Val	CA258120 NM_000021.3:c.436A>G