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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
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Canonical Allele Identifier:
CA1928296499
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.92705644_92705657delinsCTCAGTTCTAAGGT , CM000672.2:g.92705644_92705657delinsCTCAGTTCTAAGGT
GRCh38
NC_000010.10:g.94465401_94465414delinsCTCAGTTCTAAGGT , CM000672.1:g.94465401_94465414delinsCTCAGTTCTAAGGT
GRCh37
NC_000010.9:g.94455381_94455394delinsCTCAGTTCTAAGGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'