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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:
CA2261156601
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952704_43952709delinsAGAAAG , CM000679.2:g.43952704_43952709delinsAGAAAG
GRCh38
NC_000017.10:g.42030072_42030077delinsAGAAAG , CM000679.1:g.42030072_42030077delinsAGAAAG
GRCh37
NC_000017.9:g.39385598_39385603delinsAGAAAG
NCBI36
NG_023338.1:g.56761_56766delinsCTTTCT
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