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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:
CA2541222433
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.102845314_102845315insT , CM000673.2:g.102845314_102845315insT
GRCh38
NC_000011.9:g.102716045_102716046insT , CM000673.1:g.102716045_102716046insT
GRCh37
NC_000011.8:g.102221255_102221256insT
NCBI36
NG_012100.1:g.3297_3298insA
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