ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499297309
Gene: ARX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001593824
RCV001866194
ClinVar Variation:
1216161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Asp247His
CA10373884
NM_139058.3:c.739G>C