Canonical Allele Identifier: PA213325
Gene: ARX HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_620689.1:p.Ala188Ter
NM_139058.3:c.[555del;558G>C;563C>T;565C>...

NM_139058.3:c.[558del;561C=;563C>T;565C>A...

NM_139058.3:c.[558del;563C>T;565C>A]

NM_139058.3:c.[558_560del;562del;564G>C;5...

NM_139058.3:c.[558_560del;562del;564G>C;5...

NM_139058.3:c.[561del;563C>T;565C>A]

NM_139058.3:c.562_563delinsTA