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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:
CA1427120536
Gene:
Linked Data
dbSNP Id:
rs10583463
gnomAD v3:
3-186861828-T-TTATATA
gnomAD v4:
3-186861828-T-TTATATA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186861842_186861847dup , CM000665.2:g.186861842_186861847dup
GRCh38
NC_000003.11:g.186579631_186579636dup , CM000665.1:g.186579631_186579636dup
GRCh37
NC_000003.10:g.188062325_188062330dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'