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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:
CA1917578352
Gene: DDX50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.68952317_68952326delinsGCAGGGCGCA , CM000672.2:g.68952317_68952326delinsGCAGGGCGCA
GRCh38
NC_000010.10:g.70712073_70712082delinsGCAGGGCGCA , CM000672.1:g.70712073_70712082delinsGCAGGGCGCA
GRCh37
NC_000010.9:g.70382079_70382088delinsGCAGGGCGCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017016626.1:c.*1539-3441_*1539-3432delinsGCAGGGCGCA
XP_016872115.1:n.*1539-3441_*1539-3432del...
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