ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749553
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933998
ClinVar RCV Id:
RCV001202324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Ala153_Ala155dup