Allele Registry

Canonical Allele Identifier: PA2829713854

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019783

RCV000084284

ClinVar Variation:

18153

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu81Pro	CA127841 NM_007318.3:c.242T>C