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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:
CA1369169796
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.61427966_61427970delinsTTCAC , CM000665.2:g.61427966_61427970delinsTTCAC
GRCh38
NC_000003.11:g.61413640_61413644delinsTTCAC , CM000665.1:g.61413640_61413644delinsTTCAC
GRCh37
NC_000003.10:g.61388680_61388684delinsTTCAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940892.1:n.165-284_165-280delinsGTGAA
XR_940893.1:n.164+544_164+548delinsGTGAA
XR_001740725.1:n.202+544_202+548delinsGTGAA
XR_940892.2:n.203-284_203-280delinsGTGAA
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