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
NP_015557.2:p.Asn48Lys
CA390302635
NM_007318.3:c.144T>A
CA390302637
NM_007318.3:c.144T>G