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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:
CA1578118958
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.121570830_121570831delinsTG , CM000667.2:g.121570830_121570831delinsTG
GRCh38
NC_000005.9:g.120906525_120906526delinsTG , CM000667.1:g.120906525_120906526delinsTG
GRCh37
NC_000005.8:g.120934424_120934425delinsTG
NCBI36
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