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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:
CA2024154275
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045325_28045334delinsACTATGGAAT , CM000674.2:g.28045325_28045334delinsACTATGGAAT
GRCh38
NC_000012.11:g.28198258_28198267delinsACTATGGAAT , CM000674.1:g.28198258_28198267delinsACTATGGAAT
GRCh37
NC_000012.10:g.28089525_28089534delinsACTATGGAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_931460.1:n.154-6376_154-6367delinsATTCCATAGT
Search 100 bp 5'
Search 100 bp 3'