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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:
CA2059284985
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501325_102501326delinsTC , CM000674.2:g.102501325_102501326delinsTC
GRCh38
NC_000012.11:g.102895103_102895104delinsTC , CM000674.1:g.102895103_102895104delinsTC
GRCh37
NC_000012.10:g.101419233_101419234delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17437_1952+17438delinsTC
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