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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:
PA645433807
Gene: IL2RG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418256
ClinVar RCV Id:
RCV000480139
RCV002525762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000197.1:p.Pro154Ser
CA16621485
NM_000206.3:c.460C>T