Allele Registry

Canonical Allele Identifier: PA913191330

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000736265

ClinVar Variation:

599626

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr122Ala	CA390304742 NM_000021.3:c.364A>G