ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742007223
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2943949
ClinVar RCV Id:
RCV003803507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Glu250Lys
CA412612508
NM_139058.3:c.748G>A