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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:
CA565911908
Gene:
Linked Data
dbSNP Id:
rs1229727091
gnomAD v2:
6-28776006-TCGGA-T
gnomAD v3:
6-28808229-TCGGA-T
gnomAD v4:
6-28808229-TCGGA-T
MyVariant Identifiers:
chr6:g.28776007_28776010del (hg19)
chr6:g.28808230_28808233del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.28808230_28808233del , CM000668.2:g.28808230_28808233del
GRCh38
NC_000006.11:g.28776007_28776010del , CM000668.1:g.28776007_28776010del
GRCh37
NC_000006.10:g.28883986_28883989del
NCBI36
Search 100 bp 5'
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