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
ENSP00000326366.5:p.Leu250Phe
CA390299884
ENST00000324501.9:c.750G>C
CA390299886
ENST00000324501.9:c.750G>T