Allele Registry

Canonical Allele Identifier: PA2829713824

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001120059

RCV001120060

RCV001856575

ClinVar Variation:

887369

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Arg38Gln	CA7256686 NM_007318.3:c.113G>A