ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580513536
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1708045
ClinVar RCV Id:
RCV002287198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Pro448Ser
CA412611214
NM_139058.3:c.1342C>T