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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:
CA2499980101
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32700236_32700239del , CM000668.2:g.32700236_32700239del
GRCh38
NC_000006.11:g.32668013_32668016del , CM000668.1:g.32668013_32668016del
GRCh37
NC_000006.10:g.32775991_32775994del
NCBI36
Search 100 bp 5'
Search 100 bp 3'