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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:
CA2488114608
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.239233704_239233708delinsTAAAC , CM000663.2:g.239233704_239233708delinsTAAAC
GRCh38
NC_000001.10:g.239397004_239397008delinsTAAAC , CM000663.1:g.239397004_239397008delinsTAAAC
GRCh37
NC_000001.9:g.237463627_237463631delinsTAAAC
NCBI36
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