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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:
CA233587226
Gene:
Linked Data
dbSNP Id:
rs952091647
gnomAD v2:
12-21403056-GCTAA-G
gnomAD v3:
12-21250122-GCTAA-G
gnomAD v4:
12-21250122-GCTAA-G
MyVariant Identifiers:
chr12:g.21403057_21403060del (hg19)
chr12:g.21250123_21250126del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.21250125_21250128del , CM000674.2:g.21250125_21250128del
GRCh38
NC_000012.11:g.21403059_21403062del , CM000674.1:g.21403059_21403062del
GRCh37
NC_000012.10:g.21294326_21294329del
NCBI36
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