Allele Registry

Canonical Allele Identifier: PA1139668223

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001120059

RCV001120060

RCV001856575

ClinVar Variation:

887369

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg42Gln	CA7256686 NM_000021.3:c.125G>A