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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:
CA2001166496
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113409456_113409458delinsAGT , CM000673.2:g.113409456_113409458delinsAGT
GRCh38
NC_000011.9:g.113280178_113280180delinsAGT , CM000673.1:g.113280178_113280180delinsAGT
GRCh37
NC_000011.8:g.112785388_112785390delinsAGT
NCBI36
NG_008841.1:g.70822_70824delinsACT
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