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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:
CA2259636208
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618798_40618820delinsAAACCCGGTTTTGAAAAGAGAAG , CM000679.2:g.40618798_40618820delinsAAACCCGGTTTTGAAAAGAGAAG
GRCh38
NC_000017.10:g.38775050_38775072delinsAAACCCGGTTTTGAAAAGAGAAG , CM000679.1:g.38775050_38775072delinsAAACCCGGTTTTGAAAAGAGAAG
GRCh37
NC_000017.9:g.36028576_36028598delinsAAACCCGGTTTTGAAAAGAGAAG
NCBI36
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Search 100 bp 3'