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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:
CA2566601314
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938258_71938259insACTCATTGAC , CM000674.2:g.71938258_71938259insACTCATTGAC
GRCh38
NC_000012.11:g.72332038_72332039insACTCATTGAC , CM000674.1:g.72332038_72332039insACTCATTGAC
GRCh37
NC_000012.10:g.70618305_70618306insACTCATTGAC
NCBI36
NG_008279.1:g.4413_4414insACTCATTGAC
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