Allele Registry

Canonical Allele Identifier: PA1139668311

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001092311

ClinVar Variation:

872050

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Trp165Leu	CA390295964 NM_000021.3:c.494G>T