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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.
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Canonical Allele Identifier:
CA982865378
Gene:
Linked Data
gnomAD v3:
17-30237157-G-GAGGGCTGCAGTAGGGACATTAGGGGTTA
gnomAD v4:
17-30237157-G-GAGGGCTGCAGTAGGGACATTAGGGGTTA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237157_30237158insAGGGCTGCAGTAGGGACATTAGGGGTTA , CM000679.2:g.30237157_30237158insAGGGCTGCAGTAGGGACATTAGGGGTTA
GRCh38
NC_000017.10:g.28564175_28564176insAGGGCTGCAGTAGGGACATTAGGGGTTA , CM000679.1:g.28564175_28564176insAGGGCTGCAGTAGGGACATTAGGGGTTA
GRCh37
NC_000017.9:g.25588301_25588302insAGGGCTGCAGTAGGGACATTAGGGGTTA
NCBI36
NG_011747.2:g.3779_3780insTAACCCCTAATGTCCCTACTGCAGCCCT
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+87_165+88insAGGGCTGCAGTAGGGACATTAGGGGTTA
XR_001752824.1:n.280+87_280+88insAGGGCTGCAGTAGGGACATTAGGGGTTA
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