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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:
CA1139230123
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.11871507_11871508insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000686.2:g.11871507_11871508insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000024.9:g.13992213_13992214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000686.1:g.13992213_13992214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000024.8:g.12502213_12502214insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'