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
ENSP00000385948.1:p.Glu226Asp
CA390305074
ENST00000406768.1:c.678A>C
CA390305077
ENST00000406768.1:c.678A>T