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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:
CA2051037327
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.84170214_84170215delinsAT , CM000674.2:g.84170214_84170215delinsAT
GRCh38
NC_000012.11:g.84563993_84563994delinsAT , CM000674.1:g.84563993_84563994delinsAT
GRCh37
NC_000012.10:g.83088124_83088125delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749234.1:n.127+16251_127+16252delinsAT
XR_001749235.1:n.127+16251_127+16252delinsAT
Search 100 bp 5'
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