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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:
CA2793678544
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113407848_113407849insGTAAAAGTATCTGTCCTATC , CM000673.2:g.113407848_113407849insGTAAAAGTATCTGTCCTATC
GRCh38
NC_000011.9:g.113278570_113278571insGTAAAAGTATCTGTCCTATC , CM000673.1:g.113278570_113278571insGTAAAAGTATCTGTCCTATC
GRCh37
NC_000011.8:g.112783780_112783781insGTAAAAGTATCTGTCCTATC
NCBI36
NG_008841.1:g.72431_72432insGATAGGACAGATACTTTTAC
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