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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:
CA2197993417
Gene: NR2F2-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.96287128_96287132delinsTCTAA , CM000677.2:g.96287128_96287132delinsTCTAA
GRCh38
NC_000015.9:g.96830357_96830361delinsTCTAA , CM000677.1:g.96830357_96830361delinsTCTAA
GRCh37
NC_000015.8:g.94631361_94631365delinsTCTAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_102743.1:n.409+1532_409+1536delinsTTAGA
NR_125738.1:n.317+3498_317+3502delinsTTAGA
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