Allele Registry

Canonical Allele Identifier: PA091168

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019777

RCV000084329

ClinVar Variation:

18147

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu174Met	CA225050 NM_000021.3:c.520C>A