Allele Registry

Canonical Allele Identifier: PA1139668421

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001289154

RCV001871727

ClinVar Variation:

995216

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ile437Val	CA7256970 NM_000021.3:c.1309A>G