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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:
CA1427120671
Gene:
Linked Data
dbSNP Id:
rs1712185035
gnomAD v3:
3-186861910-C-CTTT
gnomAD v4:
3-186861910-C-CTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186861912_186861914dup , CM000665.2:g.186861912_186861914dup
GRCh38
NC_000003.11:g.186579701_186579703dup , CM000665.1:g.186579701_186579703dup
GRCh37
NC_000003.10:g.188062395_188062397dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'