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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:
CA982866693
Gene:
Linked Data
dbSNP Id:
rs1907327191
gnomAD v3:
17-30237337-AG-A
gnomAD v4:
17-30237337-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237343del , CM000679.2:g.30237343del
GRCh38
NC_000017.10:g.28564361del , CM000679.1:g.28564361del
GRCh37
NC_000017.9:g.25588487del
NCBI36
NG_011747.2:g.3599del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+273del
XR_001752824.1:n.280+273del
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