ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916072578
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810540
ClinVar RCV Id:
RCV000999359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Glu248Gln
CA412612522
NM_139058.3:c.742G>C