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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:
CA1917578349
Gene: DDX50
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.68952309_68952311delinsCAT , CM000672.2:g.68952309_68952311delinsCAT
GRCh38
NC_000010.10:g.70712065_70712067delinsCAT , CM000672.1:g.70712065_70712067delinsCAT
GRCh37
NC_000010.9:g.70382071_70382073delinsCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017016626.1:c.*1539-3449_*1539-3447delinsCAT
XP_016872115.1:n.*1539-3449_*1539-3447del...
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