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Canonical Allele Identifier: Get Identifier
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