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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:
CA934283275
Gene:
Linked Data
dbSNP Id:
rs1858236644
gnomAD v3:
11-641127-T-TGTC
gnomAD v4:
11-641127-T-TGTC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.641128_641130dup , CM000673.2:g.641128_641130dup
GRCh38
NC_000011.9:g.641128_641130dup , CM000673.1:g.641128_641130dup
GRCh37
NC_000011.8:g.631128_631130dup
NCBI36
NG_021241.1:g.8824_8826dup
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