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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:
PA2826338788
Gene: RAG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13136
ClinVar RCV Id:
RCV000014017
RCV000014018
RCV000681573
RCV003991458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230714.1:p.Arg39Gly
CA122867
NM_001243785.2:c.115A>G