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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:
CA2302888754
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50861416_50861417delinsGC , CM000680.2:g.50861416_50861417delinsGC
GRCh38
NC_000018.9:g.48387786_48387787delinsGC , CM000680.1:g.48387786_48387787delinsGC
GRCh37
NC_000018.8:g.46641784_46641785delinsGC
NCBI36
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