ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749946
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
957133
ClinVar RCV Id:
RCV001230060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Pro490Leu
CA412610937
NM_139058.3:c.1469C>T