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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:
CA948685768
Gene:
Linked Data
gnomAD v3:
12-66000732-TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG-T
gnomAD v4:
12-66000732-TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG-T
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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.66000750_66000787del , CM000674.2:g.66000750_66000787del
GRCh38
NC_000012.11:g.66394530_66394567del , CM000674.1:g.66394530_66394567del
GRCh37
NC_000012.10:g.64680797_64680834del
NCBI36
Search 100 bp 5'
Search 100 bp 3'