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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
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Canonical Allele Identifier:
CA943274913
Gene:
Linked Data
dbSNP Id:
rs1949496633
gnomAD v3:
11-126160537-C-CAGCAGGGCAGGTT
gnomAD v4:
11-126160537-C-CAGCAGGGCAGGTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.126160537_126160538insAGCAGGGCAGGTT , CM000673.2:g.126160537_126160538insAGCAGGGCAGGTT
GRCh38
NC_000011.9:g.126030432_126030433insAGCAGGGCAGGTT , CM000673.1:g.126030432_126030433insAGCAGGGCAGGTT
GRCh37
NC_000011.8:g.125535642_125535643insAGCAGGGCAGGTT
NCBI36
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