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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:
CA212292
Gene:
Linked Data
ClinVar Variation Id:
157198
ClinVar RCV Id:
RCV000161624
RCV000161625
MyVariant Identifiers:
chr11:g.25712300_25720706del (hg19)
chr11:g.25690753_25699159del (hg38)
PubMed:
PMID:25666259
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.25690753_25699159del , CM000673.2:g.25690753_25699159del
GRCh38
NC_000011.9:g.25712300_25720706del , CM000673.1:g.25712300_25720706del
GRCh37
NC_000011.8:g.25668876_25677282del
NCBI36
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