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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:
CA2533038631
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.105805156_105805157insAATAGAA , CM000668.2:g.105805156_105805157insAATAGAA
GRCh38
NC_000006.11:g.106253031_106253032insAATAGAA , CM000668.1:g.106253031_106253032insAATAGAA
GRCh37
NC_000006.10:g.106359724_106359725insAATAGAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942835.1:n.510+24900_510+24901insTTCTATT
XR_001744274.1:n.438+24900_438+24901insTTCTATT
XR_001744275.1:n.337+24900_337+24901insTTCTATT
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