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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:
CA1769199592
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20130236_20130237delinsAG , CM000670.2:g.20130236_20130237delinsAG
GRCh38
NC_000008.10:g.19987747_19987748delinsAG , CM000670.1:g.19987747_19987748delinsAG
GRCh37
NC_000008.9:g.20032027_20032028delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949563.1:n.3408+317_3408+318delinsAG
XR_949563.2:n.3400+317_3400+318delinsAG
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