Allele Registry

Canonical Allele Identifier: PA2829713864

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001261949

ClinVar Variation:

982376

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Pro84Arg	CA390303304 NM_007318.3:c.251C>G