Allele Registry

Canonical Allele Identifier: PA2573159722

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001938686

ClinVar Variation:

1428967

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr124Ala	CA7256725 NM_000021.3:c.370A>G