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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:
CA2489640193
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.12824192_12824196delinsCATAG , CM000664.2:g.12824192_12824196delinsCATAG
GRCh38
NC_000002.11:g.12964318_12964322delinsCATAG , CM000664.1:g.12964318_12964322delinsCATAG
GRCh37
NC_000002.10:g.12881769_12881773delinsCATAG
NCBI36
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