Allele Registry

Canonical Allele Identifier: PA225144

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084389

ClinVar Variation:

98093

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr291Pro	CA225143 NM_000021.3:c.871A>C