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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:
CA2242998171
Gene: MIR22HG
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1715088_1715090delinsCCT , CM000679.2:g.1715088_1715090delinsCCT
GRCh38
NC_000017.10:g.1618382_1618384delinsCCT , CM000679.1:g.1618382_1618384delinsCCT
GRCh37
NC_000017.9:g.1565132_1565134delinsCCT
NCBI36
NG_032811.1:g.3566_3568delinsCCT
Transcript Alleles
HGVS
Amino-acid change
NR_028502.1:n.143+1040_143+1042delinsAGG
NR_028503.1:n.143+1040_143+1042delinsAGG
NR_028504.1:n.144-637_144-635delinsAGG
NR_028505.1:n.143+1040_143+1042delinsAGG
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