Allele Registry

Canonical Allele Identifier: PA091191

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019780

RCV000084580

ClinVar Variation:

18150

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Pro436Gln	CA225518 NM_000021.3:c.1307C>A