Allele Registry

Canonical Allele Identifier: PA658800107

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000595802

ClinVar Variation:

500184

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ala164Val	CA390295943 NM_000021.3:c.491C>T