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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:
CA2171253639
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.39281341_39281342delinsTA , CM000677.2:g.39281341_39281342delinsTA
GRCh38
NC_000015.9:g.39573542_39573543delinsTA , CM000677.1:g.39573542_39573543delinsTA
GRCh37
NC_000015.8:g.37360834_37360835delinsTA
NCBI36
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