ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573301902
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1467116
ClinVar RCV Id:
RCV001970323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Pro181Thr
CA412612952
NM_139058.3:c.541C>A