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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:
CA1787862322
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.60281614_60281626delinsGGCGACTCCTGCT , CM000670.2:g.60281614_60281626delinsGGCGACTCCTGCT
GRCh38
NC_000008.10:g.61194173_61194185delinsGGCGACTCCTGCT , CM000670.1:g.61194173_61194185delinsGGCGACTCCTGCT
GRCh37
NC_000008.9:g.61356727_61356739delinsGGCGACTCCTGCT
NCBI36
NG_023193.1:g.4770_4782delinsAGCAGGAGTCGCC
NG_023193.2:g.4770_4782delinsAGCAGGAGTCGCC
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