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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:
CA727900804
Gene:
Linked Data
dbSNP Id:
rs1265259651
MyVariant Identifiers:
chr17:g.28564195_28564196insA (hg19)
chr17:g.30237177_30237178insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237177_30237178insA , CM000679.2:g.30237177_30237178insA
GRCh38
NC_000017.10:g.28564195_28564196insA , CM000679.1:g.28564195_28564196insA
GRCh37
NC_000017.9:g.25588321_25588322insA
NCBI36
NG_011747.2:g.3759_3760insT
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+107_165+108insA
XR_001752824.1:n.280+107_280+108insA
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