ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063194549
Gene: ARX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Gln373Lys
CA412611712
NM_139058.3:c.1117C>A