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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:
CA2547593966
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186671365_186671366del , CM000663.2:g.186671365_186671366del
GRCh38
NC_000001.10:g.186640497_186640498del , CM000663.1:g.186640497_186640498del
GRCh37
NC_000001.9:g.184907120_184907121del
NCBI36
NG_028206.2:g.14063_14064del
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