Allele Registry

Canonical Allele Identifier: PA2829714332

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084409

ClinVar Variation:

98111

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu416Arg	CA225177 NM_007318.3:c.1247T>G