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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:
CA2824924373
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14090329_14090330insTGTCT , CM000686.2:g.14090329_14090330insTGTCT
GRCh38
NC_000024.9:g.16202209_16202210insTGTCT , CM000686.1:g.16202209_16202210insTGTCT
GRCh37
NC_000024.8:g.14711603_14711604insTGTCT
NCBI36
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