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: NBN
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000513244.1:p.Ser518Ter
ENST00000697309.1:c.1553del
ENST00000697309.1:c.[1553del;1554dup]
ENST00000697309.1:c.[1553del;1555G>A]
ENST00000697309.1:c.[1553del;1555G=]
ENST00000697309.1:c.1553C>A
ENST00000697309.1:c.1553C>G