Allele Registry

Canonical Allele Identifier: PA913191334

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000736263

ClinVar Variation:

599624

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ser170_Leu171insTyr	CA913191117 NM_000021.3:c.510_511insTAT