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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:
CA1906910083
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.45373445_45373448delinsCCTT , CM000672.2:g.45373445_45373448delinsCCTT
GRCh38
NC_000010.10:g.45868893_45868896delinsCCTT , CM000672.1:g.45868893_45868896delinsCCTT
GRCh37
NC_000010.9:g.45188899_45188902delinsCCTT
NCBI36
NG_011437.1:g.4265_4268delinsCCTT
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