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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:
CA2196077172
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.92387229_92387231delinsCTG , CM000677.2:g.92387229_92387231delinsCTG
GRCh38
NC_000015.9:g.92930459_92930461delinsCTG , CM000677.1:g.92930459_92930461delinsCTG
GRCh37
NC_000015.8:g.90731463_90731465delinsCTG
NCBI36
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