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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
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Canonical Allele Identifier:
CA1504947299
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154594347_154594369delinsTTCTTTTTGAGATGGAGTCTCAC , CM000666.2:g.154594347_154594369delinsTTCTTTTTGAGATGGAGTCTCAC
GRCh38
NC_000004.11:g.155515499_155515521delinsTTCTTTTTGAGATGGAGTCTCAC , CM000666.1:g.155515499_155515521delinsTTCTTTTTGAGATGGAGTCTCAC
GRCh37
NC_000004.10:g.155734949_155734971delinsTTCTTTTTGAGATGGAGTCTCAC
NCBI36
NG_008832.1:g.1377_1399delinsGTGAGACTCCATCTCAAAAAGAA , LRG_557:g.1377_1399delinsGTGAGACTCCATCTCAAAAAGAA
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