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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:
CA2304988913
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.55195874_55195890delinsGTACATGTGAAACAATA , CM000680.2:g.55195874_55195890delinsGTACATGTGAAACAATA
GRCh38
NC_000018.9:g.52863105_52863121delinsGTACATGTGAAACAATA , CM000680.1:g.52863105_52863121delinsGTACATGTGAAACAATA
GRCh37
NC_000018.8:g.51014103_51014119delinsGTACATGTGAAACAATA
NCBI36
Search 100 bp 5'
Search 100 bp 3'