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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:
CA823907622
Gene:
Linked Data
dbSNP Id:
rs1449540001
gnomAD v3:
6-31826620-CCA-C
gnomAD v4:
6-31826620-CCA-C
MyVariant Identifiers:
chr6:g.31794398_31794399del (hg19)
chr6:g.31826621_31826622del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31826625_31826626del , CM000668.2:g.31826625_31826626del
GRCh38
NC_000006.11:g.31794402_31794403del , CM000668.1:g.31794402_31794403del
GRCh37
NC_000006.10:g.31902381_31902382del
NCBI36
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