Allele Registry

Canonical Allele Identifier: PA225058

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

103939

ClinVar RCV:

RCV000084333

RCV002513898

ClinVar Variation:

98047

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe177Ser	CA225057 NM_000021.3:c.530T>C