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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:
CA2024148113
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28031962_28031984delinsGTGATTCGCCTGCCTTGGCCTCC , CM000674.2:g.28031962_28031984delinsGTGATTCGCCTGCCTTGGCCTCC
GRCh38
NC_000012.11:g.28184895_28184917delinsGTGATTCGCCTGCCTTGGCCTCC , CM000674.1:g.28184895_28184917delinsGTGATTCGCCTGCCTTGGCCTCC
GRCh37
NC_000012.10:g.28076162_28076184delinsGTGATTCGCCTGCCTTGGCCTCC
NCBI36
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Search 100 bp 3'