Allele Registry

Canonical Allele Identifier: PA2829714352

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001289154

RCV001871727

ClinVar Variation:

995216

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ile433Val	CA7256970 NM_007318.3:c.1297A>G