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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:
CA1931394639
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.99591820_99591834delinsGGCTCTGCATGGCCT , CM000672.2:g.99591820_99591834delinsGGCTCTGCATGGCCT
GRCh38
NC_000010.10:g.101351577_101351591delinsGGCTCTGCATGGCCT , CM000672.1:g.101351577_101351591delinsGGCTCTGCATGGCCT
GRCh37
NC_000010.9:g.101341567_101341581delinsGGCTCTGCATGGCCT
NCBI36
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