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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
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Canonical Allele Identifier:
CA1535480914
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28339810_28339837delinsAAGTATGCCCTACAGGAGACCAAGGAAT , CM000667.2:g.28339810_28339837delinsAAGTATGCCCTACAGGAGACCAAGGAAT
GRCh38
NC_000005.9:g.28339917_28339944delinsAAGTATGCCCTACAGGAGACCAAGGAAT , CM000667.1:g.28339917_28339944delinsAAGTATGCCCTACAGGAGACCAAGGAAT
GRCh37
NC_000005.8:g.28375674_28375701delinsAAGTATGCCCTACAGGAGACCAAGGAAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'