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
ENSP00000514949.1:p.Glu116Asp
CA225009
ENST00000700322.1:c.348A>T
CA390304722
ENST00000700322.1:c.348A>C