Allele Registry

Canonical Allele Identifier: PA2829714060

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

103939

ClinVar RCV:

RCV000084333

RCV002513898

ClinVar Variation:

98047

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe173Ser	CA225057 NM_007318.3:c.518T>C