Allele Registry

Canonical Allele Identifier: PA2829714181

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019768

RCV000084363

ClinVar Variation:

18138

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu246Ser	CA225107 NM_007318.3:c.737T>C