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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:
CA1742312550
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.128238058_128238061delinsGTGT , CM000669.2:g.128238058_128238061delinsGTGT
GRCh38
NC_000007.13:g.127878111_127878114delinsGTGT , CM000669.1:g.127878111_127878114delinsGTGT
GRCh37
NC_000007.12:g.127665347_127665350delinsGTGT
NCBI36
NG_007450.1:g.1781_1784delinsGTGT
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