Allele Registry

Canonical Allele Identifier: PA2829714046

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084328

ClinVar Variation:

98043

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu169Trp	CA225049 NM_007318.3:c.506T>G