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.Asn316Lys
CA390305048
ENST00000557511.5:c.948T>G
CA390305049
ENST00000557511.5:c.948T>A