Allele Registry

Canonical Allele Identifier: PA2741809086

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV003791763

ClinVar Variation:

2939037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ala164Asp	CA390295947 NM_000021.3:c.491C>A