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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742007177
Gene: ARX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2952794
ClinVar RCV Id:
RCV003817928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Pro184Ala
CA412612931
NM_139058.3:c.550C>G