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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:
CA2368306588
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.49958698_49958699delinsTC , CM000682.2:g.49958698_49958699delinsTC
GRCh38
NC_000020.10:g.48575235_48575236delinsTC , CM000682.1:g.48575235_48575236delinsTC
GRCh37
NC_000020.9:g.48008642_48008643delinsTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'