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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:
CA591465633
Gene:
Linked Data
dbSNP Id:
rs1430325081
gnomAD v2:
10-6114634-T-TCTGAAGAAC
gnomAD v3:
10-6072671-T-TCTGAAGAAC
gnomAD v4:
10-6072671-T-TCTGAAGAAC
MyVariant Identifiers:
chr10:g.6114634_6114635insCTGAAGAAC (hg19)
chr10:g.6072671_6072672insCTGAAGAAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.6072673_6072681dup , CM000672.2:g.6072673_6072681dup
GRCh38
NC_000010.10:g.6114636_6114644dup , CM000672.1:g.6114636_6114644dup
GRCh37
NC_000010.9:g.6154642_6154650dup
NCBI36
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