Allele Registry

Canonical Allele Identifier: PA225160

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084397

RCV000198517

ClinVar Variation:

98101

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu381Val	CA225159 NM_000021.3:c.1141C>G