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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:
CA2045505443
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938184_71938185delinsGT , CM000674.2:g.71938184_71938185delinsGT
GRCh38
NC_000012.11:g.72331964_72331965delinsGT , CM000674.1:g.72331964_72331965delinsGT
GRCh37
NC_000012.10:g.70618231_70618232delinsGT
NCBI36
NG_008279.1:g.4339_4340delinsGT
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