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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:
CA322664889
Gene: MIAT
HGNC
NCBI
Linked Data
dbSNP Id:
rs912521413
gnomAD v2:
22-27058700-A-G
gnomAD v3:
22-26662736-A-G
gnomAD v4:
22-26662736-A-G
MyVariant Identifiers:
chr22:g.27058700A>G (hg19)
chr22:g.26662736A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.26662736A>G , CM000684.2:g.26662736A>G
GRCh38
NC_000022.10:g.27058700A>G , CM000684.1:g.27058700A>G
GRCh37
NC_000022.9:g.25388700A>G
NCBI36
NG_016621.2:g.10255A>G
Transcript Alleles
HGVS
Amino-acid change
NR_003491.3:n.174-580A>G
NR_033319.2:n.174-580A>G
NR_033320.2:n.174-580A>G
NR_033321.2:n.174-580A>G
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