ClinGen Allele Registry
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: GNPTAB
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_016875451.1:p.Leu728Ter
XM_017019962.2:c.2183T>A