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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:
CA1953510982
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13873942_13873947delinsTGTGTG , CM000673.2:g.13873942_13873947delinsTGTGTG
GRCh38
NC_000011.9:g.13895489_13895494delinsTGTGTG , CM000673.1:g.13895489_13895494delinsTGTGTG
GRCh37
NC_000011.8:g.13852065_13852070delinsTGTGTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'