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: SORL1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000260197.6:p.Asn1246Lys
ENST00000260197.12:c.3738C>A
ENST00000260197.12:c.3738C>G