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
ENSP00000451915.2:p.Gln112His	CA390303703 ENST00000554131.6:c.336G>C CA390303706 ENST00000554131.6:c.336G>T