ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213175
Gene: ARX
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_620689.1:p.Glu78Ter
NM_139058.3:c.232G>T