Allele Registry

Canonical Allele Identifier: PA2573159721

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001987911

RCV003170116

ClinVar Variation:

1446843

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Glu123Gln	CA390304753 NM_000021.3:c.367G>C