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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:
CA1487889218
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.117158757_117158760delinsTAAG , CM000666.2:g.117158757_117158760delinsTAAG
GRCh38
NC_000004.11:g.118079913_118079916delinsTAAG , CM000666.1:g.118079913_118079916delinsTAAG
GRCh37
NC_000004.10:g.118299361_118299364delinsTAAG
NCBI36
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