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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:
PA658676434
Gene: RANBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
469483
ClinVar RCV Id:
RCV000534686
RCV000602236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006258.3:p.Met243Thr
CA1822110
NM_006267.5:c.728T>C