Allele Registry

Canonical Allele Identifier: PA3057539528

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV005210408

ClinVar Variation:

3748568

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Thr70Arg	CA390303035 NM_007318.3:c.209C>G