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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:
CA1057418882
Gene:
Linked Data
dbSNP Id:
rs1712181160
gnomAD v3:
3-186861805-TAATG-T
gnomAD v4:
3-186861805-TAATG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186861806_186861809del , CM000665.2:g.186861806_186861809del
GRCh38
NC_000003.11:g.186579595_186579598del , CM000665.1:g.186579595_186579598del
GRCh37
NC_000003.10:g.188062289_188062292del
NCBI36
Search 100 bp 5'
Search 100 bp 3'