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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:
CA1481407375
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501225_102501250delinsCCCCACCCCCGGCAGCGACCCTACCT , CM000666.2:g.102501225_102501250delinsCCCCACCCCCGGCAGCGACCCTACCT
GRCh38
NC_000004.11:g.103422382_103422407delinsCCCCACCCCCGGCAGCGACCCTACCT , CM000666.1:g.103422382_103422407delinsCCCCACCCCCGGCAGCGACCCTACCT
GRCh37
NC_000004.10:g.103641414_103641439delinsCCCCACCCCCGGCAGCGACCCTACCT
NCBI36
NG_050628.1:g.4897_4922delinsCCCCACCCCCGGCAGCGACCCTACCT
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.642_643+24delinsAGGTAGGGTCGCTGCCGGGGGTGGGG
NR_136202.1:n.48+1189_48+1214delinsAGGTAGGGTCGCTGCCGGGGGTGGGG
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