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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:
CA1139499506
Gene:
Linked Data
dbSNP Id:
rs2044276395
gnomAD v3:
Y-17086402-TAA-T
gnomAD v4:
Y-17086402-TAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.17086403_17086404del , CM000686.2:g.17086403_17086404del
GRCh38
NC_000024.9:g.19198283_19198284del , CM000686.1:g.19198283_19198284del
GRCh37
NC_000024.8:g.17707677_17707678del
NCBI36
Search 100 bp 5'
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