Allele Registry

Canonical Allele Identifier: PA225062

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019779

RCV000020085

RCV000084335

ClinVar Variation:

18149

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Gly183Val	CA225061 NM_000021.3:c.548G>T