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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:
CA1864365075
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.92797201_92797203delinsGAC , CM000671.2:g.92797201_92797203delinsGAC
GRCh38
NC_000009.11:g.95559483_95559485delinsGAC , CM000671.1:g.95559483_95559485delinsGAC
GRCh37
NC_000009.10:g.94599304_94599306delinsGAC
NCBI36
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