Allele Registry

Canonical Allele Identifier: PA091194

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084324

ClinVar Variation:

98040

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ser169Pro	CA225044 NM_000021.3:c.505T>C