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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:
CA1082406864
Gene:
Linked Data
dbSNP Id:
rs1753977287
gnomAD v3:
5-143520330-A-AG
gnomAD v4:
5-143520330-A-AG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.143520330_143520331insG , CM000667.2:g.143520330_143520331insG
GRCh38
NC_000005.9:g.142899895_142899896insG , CM000667.1:g.142899895_142899896insG
GRCh37
NC_000005.8:g.142880088_142880089insG
NCBI36
Search 100 bp 5'
Search 100 bp 3'