Allele Registry

Canonical Allele Identifier: PA2829713893

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019775

RCV000020084

RCV000084292

RCV001228362

ClinVar Variation:

18145

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu109Pro	CA224998 NM_007318.3:c.326T>C