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
ENSP00000514988.1:p.Glu40Asp
CA390304763
ENST00000700437.1:c.120G>C
CA390304765
ENST00000700437.1:c.120G>T