Allele Registry

Canonical Allele Identifier: PA2829713860

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001092310

ClinVar Variation:

872049

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Pro84Leu	CA390303306 NM_007318.3:c.251C>T