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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:
CA2483860404
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.208584162_208584164delinsTTC , CM000663.2:g.208584162_208584164delinsTTC
GRCh38
NC_000001.10:g.208757507_208757509delinsTTC , CM000663.1:g.208757507_208757509delinsTTC
GRCh37
NC_000001.9:g.206824130_206824132delinsTTC
NCBI36
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