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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:
CA982865380
Gene:
Linked Data
gnomAD v3:
17-30237157-G-GAGGGCTGCAGTAGGGACATTA
gnomAD v4:
17-30237157-G-GAGGGCTGCAGTAGGGACATTA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237157_30237158insAGGGCTGCAGTAGGGACATTA , CM000679.2:g.30237157_30237158insAGGGCTGCAGTAGGGACATTA
GRCh38
NC_000017.10:g.28564175_28564176insAGGGCTGCAGTAGGGACATTA , CM000679.1:g.28564175_28564176insAGGGCTGCAGTAGGGACATTA
GRCh37
NC_000017.9:g.25588301_25588302insAGGGCTGCAGTAGGGACATTA
NCBI36
NG_011747.2:g.3779_3780insTAATGTCCCTACTGCAGCCCT
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+87_165+88insAGGGCTGCAGTAGGGACATTA
XR_001752824.1:n.280+87_280+88insAGGGCTGCAGTAGGGACATTA
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