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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:
CA1087254535
Gene:
Linked Data
dbSNP Id:
rs201800723
gnomAD v3:
6-28808447-ATGTTTGTT-A
gnomAD v4:
6-28808447-ATGTTTGTT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.28808457_28808464del , CM000668.2:g.28808457_28808464del
GRCh38
NC_000006.11:g.28776234_28776241del , CM000668.1:g.28776234_28776241del
GRCh37
NC_000006.10:g.28884213_28884220del
NCBI36
Search 100 bp 5'
Search 100 bp 3'