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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:
CA1893964511
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.18099339_18099341delinsCTT , CM000672.2:g.18099339_18099341delinsCTT
GRCh38
NC_000010.10:g.18388268_18388270delinsCTT , CM000672.1:g.18388268_18388270delinsCTT
GRCh37
NC_000010.9:g.18428274_18428276delinsCTT
NCBI36
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