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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:
CA2160347300
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551578_103551582delinsTCTCA , CM000676.2:g.103551578_103551582delinsTCTCA
GRCh38
NC_000014.8:g.104017915_104017919delinsTCTCA , CM000676.1:g.104017915_104017919delinsTCTCA
GRCh37
NC_000014.7:g.103087668_103087672delinsTCTCA
NCBI36
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