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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:
CA1080085009
Gene:
Linked Data
dbSNP Id:
rs1748549385
gnomAD v3:
5-110854187-TGGGCAG-T
gnomAD v4:
5-110854187-TGGGCAG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.110854188_110854193del , CM000667.2:g.110854188_110854193del
GRCh38
NC_000005.9:g.110189887_110189892del , CM000667.1:g.110189887_110189892del
GRCh37
NC_000005.8:g.110217786_110217791del
NCBI36
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Search 100 bp 3'