Allele Registry

Canonical Allele Identifier: PA3057545378

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV005221338

ClinVar Variation:

3759251

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala75Thr	CA7256699 NM_007318.3:c.223G>A