Allele Registry

Canonical Allele Identifier: PA091141

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019769

RCV001814004

ClinVar Variation:

18139

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg278Thr	CA127838 NM_000021.3:c.833G>C