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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:
CA2137810285
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.53944198_53944202delinsCTATG , CM000676.2:g.53944198_53944202delinsCTATG
GRCh38
NC_000014.8:g.54410916_54410920delinsCTATG , CM000676.1:g.54410916_54410920delinsCTATG
GRCh37
NC_000014.7:g.53480666_53480670delinsCTATG
NCBI36
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