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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:
CA2248746079
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.13655862_13655863delinsGC , CM000679.2:g.13655862_13655863delinsGC
GRCh38
NC_000017.10:g.13559179_13559180delinsGC , CM000679.1:g.13559179_13559180delinsGC
GRCh37
NC_000017.9:g.13499904_13499905delinsGC
NCBI36
Search 100 bp 5'
Search 100 bp 3'