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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:
CA2032069544
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.42767045_42767047delinsTCG , CM000674.2:g.42767045_42767047delinsTCG
GRCh38
NC_000012.11:g.43160847_43160849delinsTCG , CM000674.1:g.43160847_43160849delinsTCG
GRCh37
NC_000012.10:g.41447114_41447116delinsTCG
NCBI36
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