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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:
CA1041461290
Gene:
Linked Data
gnomAD v3:
2-203874002-C-CATTCAGTATCTGGTGGAGAATGTTT
gnomAD v4:
2-203874002-C-CATTCAGTATCTGGTGGAGAATGTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203874003_203874004insTTCAGTATCTGGTGGAGAATGTTTA , CM000664.2:g.203874003_203874004insTTCAGTATCTGGTGGAGAATGTTTA
GRCh38
NC_000002.11:g.204738726_204738727insTTCAGTATCTGGTGGAGAATGTTTA , CM000664.1:g.204738726_204738727insTTCAGTATCTGGTGGAGAATGTTTA
GRCh37
NC_000002.10:g.204446971_204446972insTTCAGTATCTGGTGGAGAATGTTTA
NCBI36
NG_011502.1:g.11218_11219insTTCAGTATCTGGTGGAGAATGTTTA
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