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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:
CA982865422
Gene:
Linked Data
gnomAD v3:
17-30237163-ATGGGGGGATGCTGG-A
gnomAD v4:
17-30237163-ATGGGGGGATGCTGG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237164_30237177del , CM000679.2:g.30237164_30237177del
GRCh38
NC_000017.10:g.28564182_28564195del , CM000679.1:g.28564182_28564195del
GRCh37
NC_000017.9:g.25588308_25588321del
NCBI36
NG_011747.2:g.3760_3773del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+94_165+107del
XR_001752824.1:n.280+94_280+107del
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