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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:
CA1700287425
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.36788714_36788717delinsATTC , CM000669.2:g.36788714_36788717delinsATTC
GRCh38
NC_000007.13:g.36828319_36828322delinsATTC , CM000669.1:g.36828319_36828322delinsATTC
GRCh37
NC_000007.12:g.36794844_36794847delinsATTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'