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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:
CA1144164733
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182199851_182199855delinsGAGAG , CM000663.2:g.182199851_182199855delinsGAGAG
GRCh38
NC_000001.10:g.182168986_182168990delinsGAGAG , CM000663.1:g.182168986_182168990delinsGAGAG
GRCh37
NC_000001.9:g.180435609_180435613delinsGAGAG
NCBI36
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