Allele Registry

Canonical Allele Identifier: PA915953691

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000853575

ClinVar Variation:

692235

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe86Cys	CA390303263 NM_000021.3:c.257T>G