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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:
CA2242998187
Gene: MIR22HG
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1715114_1715121delinsCCCAGAGG , CM000679.2:g.1715114_1715121delinsCCCAGAGG
GRCh38
NC_000017.10:g.1618408_1618415delinsCCCAGAGG , CM000679.1:g.1618408_1618415delinsCCCAGAGG
GRCh37
NC_000017.9:g.1565158_1565165delinsCCCAGAGG
NCBI36
NG_032811.1:g.3592_3599delinsCCCAGAGG
Transcript Alleles
HGVS
Amino-acid change
NR_028502.1:n.143+1009_143+1016delinsCCTCTGGG
NR_028503.1:n.143+1009_143+1016delinsCCTCTGGG
NR_028504.1:n.144-668_144-661delinsCCTCTGGG
NR_028505.1:n.143+1009_143+1016delinsCCTCTGGG
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