Allele Registry

Canonical Allele Identifier: PA2829713857

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000853575

ClinVar Variation:

692235

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe82Cys	CA390303263 NM_007318.3:c.245T>G