Allele Registry

Canonical Allele Identifier: PA2829714003

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV003791763

ClinVar Variation:

2939037

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala160Asp	CA390295947 NM_007318.3:c.479C>A