Allele Registry

Canonical Allele Identifier: PA2829714236

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019759

RCV000701892

ClinVar Variation:

18131

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Glu276Ala	CA341491 NM_007318.3:c.827A>C