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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:
CA1458943178
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55131056_55131062delinsGAGATAT , CM000666.2:g.55131056_55131062delinsGAGATAT
GRCh38
NC_000004.11:g.55997223_55997229delinsGAGATAT , CM000666.1:g.55997223_55997229delinsGAGATAT
GRCh37
NC_000004.10:g.55691980_55691986delinsGAGATAT
NCBI36
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Search 100 bp 3'