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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:
CA1145676137
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94564032_94564037delinsTTTATT , CM000663.2:g.94564032_94564037delinsTTTATT
GRCh38
NC_000001.10:g.95029588_95029593delinsTTTATT , CM000663.1:g.95029588_95029593delinsTTTATT
GRCh37
NC_000001.9:g.94802176_94802181delinsTTTATT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738161.1:n.461+419_461+424delinsTTTATT
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Search 100 bp 3'