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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:
CA238182720
Gene:
Linked Data
dbSNP Id:
rs573535991
gnomAD v2:
12-68036959-GTTT-G
gnomAD v3:
12-67643179-GTTT-G
gnomAD v4:
12-67643179-GTTT-G
MyVariant Identifiers:
chr12:g.68036960_68036962del (hg19)
chr12:g.67643180_67643182del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.67643180_67643182del , CM000674.2:g.67643180_67643182del
GRCh38
NC_000012.11:g.68036960_68036962del , CM000674.1:g.68036960_68036962del
GRCh37
NC_000012.10:g.66323227_66323229del
NCBI36
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