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
ENSP00000514966.1:p.Leu432Phe
CA390306052
ENST00000700375.1:c.1296G>C
CA390306053
ENST00000700375.1:c.1296G>T