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
ENSP00000514942.1:p.Glu72Asp
CA390303006
ENST00000700315.1:c.216G>C
CA390303009
ENST00000700315.1:c.216G>T