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
ENSP00000451429.1:p.Lys314Asn
CA390305018
ENST00000557511.5:c.942G>C
CA390305020
ENST00000557511.5:c.942G>T