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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:
CA982866263
Gene:
Linked Data
gnomAD v3:
17-30237283-GCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGAT-G
gnomAD v4:
17-30237283-GCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGAT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237284_30237325del , CM000679.2:g.30237284_30237325del
GRCh38
NC_000017.10:g.28564302_28564343del , CM000679.1:g.28564302_28564343del
GRCh37
NC_000017.9:g.25588428_25588469del
NCBI36
NG_011747.2:g.3612_3653del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+214_165+255del
XR_001752824.1:n.280+214_280+255del
Search 100 bp 5'
Search 100 bp 3'