Allele Registry

Canonical Allele Identifier: PA091167

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084328

ClinVar Variation:

98043

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu173Trp	CA225049 NM_000021.3:c.518T>G