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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:
CA1044506973
Gene:
Linked Data
dbSNP Id:
rs1692650488
gnomAD v3:
3-3617176-CAATA-C
gnomAD v4:
3-3617176-CAATA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.3617177_3617180del , CM000665.2:g.3617177_3617180del
GRCh38
NC_000003.11:g.3658861_3658864del , CM000665.1:g.3658861_3658864del
GRCh37
NC_000003.10:g.3633861_3633864del
NCBI36
Search 100 bp 5'
Search 100 bp 3'