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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:
CA982866188
Gene:
Linked Data
gnomAD v3:
17-30237279-G-GGATGCTGGGGGTGCAGGGGA
gnomAD v4:
17-30237279-G-GGATGCTGGGGGTGCAGGGGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237291_30237310dup , CM000679.2:g.30237291_30237310dup
GRCh38
NC_000017.10:g.28564309_28564328dup , CM000679.1:g.28564309_28564328dup
GRCh37
NC_000017.9:g.25588435_25588454dup
NCBI36
NG_011747.2:g.3638_3657dup
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+221_165+240dup
XR_001752824.1:n.280+221_280+240dup
Search 100 bp 5'
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