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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:
CA1087629189
Gene:
Linked Data
dbSNP Id:
rs1761520898
gnomAD v3:
6-32713859-GGAT-G
gnomAD v4:
6-32713859-GGAT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32713861_32713863del , CM000668.2:g.32713861_32713863del
GRCh38
NC_000006.11:g.32681638_32681640del , CM000668.1:g.32681638_32681640del
GRCh37
NC_000006.10:g.32789616_32789618del
NCBI36
Search 100 bp 5'
Search 100 bp 3'