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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:
CA914142665
Gene: MIR22HG
HGNC
NCBI
Linked Data
dbSNP Id:
rs1567710665
gnomAD v2:
17-1618382-CCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1715091_1715092del , CM000679.2:g.1715091_1715092del
GRCh38
NC_000017.10:g.1618385_1618386del , CM000679.1:g.1618385_1618386del
GRCh37
NC_000017.9:g.1565135_1565136del
NCBI36
NG_032811.1:g.3569_3570del
Transcript Alleles
HGVS
Amino-acid change
NR_028502.1:n.143+1040_143+1041del
NR_028503.1:n.143+1040_143+1041del
NR_028504.1:n.144-637_144-636del
NR_028505.1:n.143+1040_143+1041del
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