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: PSEN1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000012.1:p.Phe118Leu
NM_000021.3:c.352T>C
NM_000021.3:c.354C>A
NM_000021.3:c.354C>G