Allele Registry

Canonical Allele Identifier: PA2829714043

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000736263

ClinVar Variation:

599624

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ser166_Leu167insTyr	CA913191117 NM_007318.3:c.498_499insTAT