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.Trp73Cys
CA225037
ENST00000406768.1:c.219G>C
CA390295972
ENST00000406768.1:c.219G>T