This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451880.2:p.Asp333Glu
CA390305658
ENST00000557293.6:c.999C>A
CA390305659
ENST00000557293.6:c.999C>G