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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:
CA2470060383
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.10041240_10041255delinsCCAACTGCATGCCTTA , CM000686.2:g.10041240_10041255delinsCCAACTGCATGCCTTA
GRCh38
NC_000024.9:g.9878849_9878864delinsCCAACTGCATGCCTTA , CM000686.1:g.9878849_9878864delinsCCAACTGCATGCCTTA
GRCh37
NC_000024.8:g.10488849_10488864delinsCCAACTGCATGCCTTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'