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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:
CA2229914412
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736943_68736945delinsGAC , CM000678.2:g.68736943_68736945delinsGAC
GRCh38
NC_000016.9:g.68770846_68770848delinsGAC , CM000678.1:g.68770846_68770848delinsGAC
GRCh37
NC_000016.8:g.67328347_67328349delinsGAC
NCBI36
NG_008021.1:g.4652_4654delinsGAC , LRG_301:g.4652_4654delinsGAC
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