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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:
CA2470503647
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11950243_11950265delinsATGGCATTTCATACATCTCAGTG , CM000686.2:g.11950243_11950265delinsATGGCATTTCATACATCTCAGTG
GRCh38
NC_000024.9:g.14070949_14070971delinsATGGCATTTCATACATCTCAGTG , CM000686.1:g.14070949_14070971delinsATGGCATTTCATACATCTCAGTG
GRCh37
NC_000024.8:g.12580949_12580971delinsATGGCATTTCATACATCTCAGTG
NCBI36
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