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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:
CA2049072467
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.80069186_80069208delinsCATATGGGCCCTGGAGACAGAAT , CM000674.2:g.80069186_80069208delinsCATATGGGCCCTGGAGACAGAAT
GRCh38
NC_000012.11:g.80462966_80462988delinsCATATGGGCCCTGGAGACAGAAT , CM000674.1:g.80462966_80462988delinsCATATGGGCCCTGGAGACAGAAT
GRCh37
NC_000012.10:g.78987097_78987119delinsCATATGGGCCCTGGAGACAGAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_945140.1:n.456+8004_456+8026delinsCATATGGGCCCTGGAGACAGAAT
XR_945141.1:n.1758+8004_1758+8026delinsCATATGGGCCCTGGAGACAGAAT
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