ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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_011535275.1:p.Ser286Ter
XM_011536973.2:c.[855del;857C>T]
XM_011536973.2:c.[855del;857C>T;859A=]
XM_011536973.2:c.[855del;857C>T;859A>G]
XM_011536973.2:c.857C>A
XM_011536973.2:c.857C>G
XM_011536973.2:c.[857_943del;945C>A]