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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:
CA2047190509
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.76004971_76004972delinsTA , CM000674.2:g.76004971_76004972delinsTA
GRCh38
NC_000012.11:g.76398751_76398752delinsTA , CM000674.1:g.76398751_76398752delinsTA
GRCh37
NC_000012.10:g.74685018_74685019delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945110.1:n.311+1217_311+1218delinsTA
XR_001749218.2:n.402+1217_402+1218delinsTA
XR_945110.3:n.402+1217_402+1218delinsTA
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