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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:
CA943580363
Gene:
Linked Data
dbSNP Id:
rs1941820286
gnomAD v3:
11-130759293-CAG-C
gnomAD v4:
11-130759293-CAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.130759294_130759295del , CM000673.2:g.130759294_130759295del
GRCh38
NC_000011.9:g.130629189_130629190del , CM000673.1:g.130629189_130629190del
GRCh37
NC_000011.8:g.130134399_130134400del
NCBI36
Search 100 bp 5'
Search 100 bp 3'