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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:
CA1818962214
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128632990_128632991delinsGA , CM000670.2:g.128632990_128632991delinsGA
GRCh38
NC_000008.10:g.129645236_129645237delinsGA , CM000670.1:g.129645236_129645237delinsGA
GRCh37
NC_000008.9:g.129714418_129714419delinsGA
NCBI36
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