ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139750008
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
976056
ClinVar RCV Id:
RCV001253235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Val508Met
CA412610835
NM_139058.3:c.1522G>A