Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000326366.5:p.Thr116Ser	CA390304673 ENST00000324501.9:c.346A>T CA390304677 ENST00000324501.9:c.347C>G