Allele Registry

Canonical Allele Identifier: PA091175

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019754

RCV000084387

ClinVar Variation:

18126

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu286Val	CA225141 NM_000021.3:c.856C>G