Allele Registry

Canonical Allele Identifier: PA2829713839

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084283

ClinVar Variation:

98006

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ile79_Met80del	CA224985 NM_007318.3:c.235_240del