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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:
CA2242998189
Gene: MIR22HG
HGNC
NCBI
Linked Data
dbSNP Id:
rs1914438050
gnomAD v3:
17-1715114-CCCAGAGG-C
gnomAD v4:
17-1715114-CCCAGAGG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1715115_1715121del , CM000679.2:g.1715115_1715121del
GRCh38
NC_000017.10:g.1618409_1618415del , CM000679.1:g.1618409_1618415del
GRCh37
NC_000017.9:g.1565159_1565165del
NCBI36
NG_032811.1:g.3593_3599del
Transcript Alleles
HGVS
Amino-acid change
NR_028502.1:n.143+1009_143+1015del
NR_028503.1:n.143+1009_143+1015del
NR_028504.1:n.144-668_144-662del
NR_028505.1:n.143+1009_143+1015del
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