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
NP_000012.1:p.Thr116Ser	CA390304673 NM_000021.3:c.346A>T CA390304677 NM_000021.3:c.347C>G