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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:
CA2221132796
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.49108613_49108614delinsCT , CM000678.2:g.49108613_49108614delinsCT
GRCh38
NC_000016.9:g.49142524_49142525delinsCT , CM000678.1:g.49142524_49142525delinsCT
GRCh37
NC_000016.8:g.47700025_47700026delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_933517.1:n.810+1330_810+1331delinsAG
XR_001752138.2:n.591+5362_591+5363delinsAG
XR_933517.2:n.810+1330_810+1331delinsAG
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