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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:
CA990214197
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50861445_50861450dup , CM000680.2:g.50861445_50861450dup
GRCh38
NC_000018.9:g.48387815_48387820dup , CM000680.1:g.48387815_48387820dup
GRCh37
NC_000018.8:g.46641813_46641818dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'