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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:
CA1282456425
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118079614_118079615delinsGC , CM000664.2:g.118079614_118079615delinsGC
GRCh38
NC_000002.11:g.118837190_118837191delinsGC , CM000664.1:g.118837190_118837191delinsGC
GRCh37
NC_000002.10:g.118553660_118553661delinsGC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XM_011512305.1:c.697-2083_697-2082delinsGC
XP_011510607.1:n.697-2083_697-2082delinsGC
XR_001739662.2:n.138+8636_138+8637delinsGC
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