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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:
CA2526778329
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.32890314_32890315insACCGATACCAAAGTTT , CM000683.2:g.32890314_32890315insACCGATACCAAAGTTT
GRCh38
NC_000021.8:g.34262622_34262623insACCGATACCAAAGTTT , CM000683.1:g.34262622_34262623insACCGATACCAAAGTTT
GRCh37
NC_000021.7:g.33184492_33184493insACCGATACCAAAGTTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937669.1:n.460-3264_460-3263insACCGATACCAAAGTTT
XR_937669.2:n.1038-3264_1038-3263insACCGATACCAAAGTTT
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