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
ENSP00000514968.1:p.Leu422Phe
CA390305987
ENST00000700378.1:c.1266A>C
CA390305988
ENST00000700378.1:c.1266A>T