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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:
CA2513992413
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19448491_19448492insGATGGAAT , CM000686.2:g.19448491_19448492insGATGGAAT
GRCh38
NC_000024.9:g.21610377_21610378insGATGGAAT , CM000686.1:g.21610377_21610378insGATGGAAT
GRCh37
NC_000024.8:g.20069765_20069766insGATGGAAT
NCBI36
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