ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: PSEN2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000486498.2:p.Ile244del
ENST00000626989.3:c.731_733del
ENST00000626989.3:c.[731_733del;735G>A]
