Allele Registry

Canonical Allele Identifier: PA2829713913

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001987911

RCV003170116

ClinVar Variation:

1446843

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Glu119Gln	CA390304753 NM_007318.3:c.355G>C