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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:
CA1721232438
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.82462150_82462152delinsCTG , CM000669.2:g.82462150_82462152delinsCTG
GRCh38
NC_000007.13:g.82091466_82091468delinsCTG , CM000669.1:g.82091466_82091468delinsCTG
GRCh37
NC_000007.12:g.81929402_81929404delinsCTG
NCBI36
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Search 100 bp 3'