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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:
CA2731554570
Gene: IDH2-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs2151559188
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.90104869_90104870insCTCT , CM000677.2:g.90104869_90104870insCTCT
GRCh38
NC_000015.9:g.90648101_90648102insCTCT , CM000677.1:g.90648101_90648102insCTCT
GRCh37
NC_000015.8:g.88449105_88449106insCTCT
NCBI36
NG_023302.1:g.2609_2610insAGAG , LRG_611:g.2609_2610insAGAG
Transcript Alleles
HGVS
Amino-acid change
XR_932602.1:n.165+1417_165+1418insCTCT
NR_149130.1:n.320+1417_320+1418insCTCT
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