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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:
CA605683548
Gene:
Linked Data
dbSNP Id:
rs72011118
gnomAD v2:
12-66394512-TTGTGTGTG-T
gnomAD v3:
12-66000732-TTGTGTGTG-T
gnomAD v4:
12-66000732-TTGTGTGTG-T
MyVariant Identifiers:
chr12:g.66394525_66394532del (hg19)
chr12:g.66394513_66394520del (hg19)
chr12:g.66000745_66000752del (hg38)
chr12:g.66000733_66000740del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.66000780_66000787del , CM000674.2:g.66000780_66000787del
GRCh38
NC_000012.11:g.66394560_66394567del , CM000674.1:g.66394560_66394567del
GRCh37
NC_000012.10:g.64680827_64680834del
NCBI36
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