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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:
CA2041561748
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.63136523_63136528delinsCCTAAA , CM000674.2:g.63136523_63136528delinsCCTAAA
GRCh38
NC_000012.11:g.63530303_63530308delinsCCTAAA , CM000674.1:g.63530303_63530308delinsCCTAAA
GRCh37
NC_000012.10:g.61816570_61816575delinsCCTAAA
NCBI36
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