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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:
CA2054320864
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.91111985_91111997delinsGGCCATGAGGGTA , CM000674.2:g.91111985_91111997delinsGGCCATGAGGGTA
GRCh38
NC_000012.11:g.91505762_91505774delinsGGCCATGAGGGTA , CM000674.1:g.91505762_91505774delinsGGCCATGAGGGTA
GRCh37
NC_000012.10:g.90029893_90029905delinsGGCCATGAGGGTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'