ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580513412
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2388446
ClinVar RCV Id:
RCV002729876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Ala149Glu
CA412613168
NM_139058.3:c.446C>A