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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:
CA2523239348
Gene: MIR22HG
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1715094_1715097del , CM000679.2:g.1715094_1715097del
GRCh38
NC_000017.10:g.1618388_1618391del , CM000679.1:g.1618388_1618391del
GRCh37
NC_000017.9:g.1565138_1565141del
NCBI36
NG_032811.1:g.3572_3575del
Transcript Alleles
HGVS
Amino-acid change
NR_028502.1:n.143+1037_143+1040del
NR_028503.1:n.143+1037_143+1040del
NR_028504.1:n.144-640_144-637del
NR_028505.1:n.143+1037_143+1040del
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