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) Transcript change
XP_005267921.1:p.Ile83_Met84del
XM_005267864.1:c.247_252del

XM_005267864.1:c.[247_252del;254T=]

XM_005267864.1:c.[247_252del;255C>A]

XM_005267864.1:c.[247_252del;255C=]

XM_005267864.1:c.[247_252del;255C>G]

XM_005267864.1:c.[247_252del;255C>T]