Allele Registry

Canonical Allele Identifier: PA2829714248

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019754

RCV000084387

ClinVar Variation:

18126

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu282Val	CA225141 NM_007318.3:c.844C>G