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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:
CA2190318757
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.80139930_80139933delinsGTAT , CM000677.2:g.80139930_80139933delinsGTAT
GRCh38
NC_000015.9:g.80432272_80432275delinsGTAT , CM000677.1:g.80432272_80432275delinsGTAT
GRCh37
NC_000015.8:g.78219327_78219330delinsGTAT
NCBI36
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