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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:
PA120302
Gene: JAK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9360
ClinVar RCV Id:
RCV000009954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000206.2:p.Tyr100Cys
CA120300
NM_000215.4:c.299A>G