Allele Registry

Canonical Allele Identifier: PA2829714104

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019773

RCV000518563

RCV000640609

RCV002482890

ClinVar Variation:

18143

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Gly202Ala	CA258122 NM_007318.3:c.605G>C