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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:
CA2459258426
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.133003149_133003152delinsTAAC , CM000685.2:g.133003149_133003152delinsTAAC
GRCh38
NC_000023.10:g.132137177_132137180delinsTAAC , CM000685.1:g.132137177_132137180delinsTAAC
GRCh37
NC_000023.9:g.131964843_131964846delinsTAAC
NCBI36
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