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
ENSP00000514939.1:p.Lys347Asn	CA390306041 ENST00000700312.1:c.1041A>C CA390306042 ENST00000700312.1:c.1041A>T