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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:
CA1066758305
Gene:
Linked Data
dbSNP Id:
rs1723077694
gnomAD v3:
4-111690487-GCATAGCACTAAGTTTTGCAAT-G
gnomAD v4:
4-111690487-GCATAGCACTAAGTTTTGCAAT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.111690491_111690511del , CM000666.2:g.111690491_111690511del
GRCh38
NC_000004.11:g.112611647_112611667del , CM000666.1:g.112611647_112611667del
GRCh37
NC_000004.10:g.112831096_112831116del
NCBI36
Search 100 bp 5'
Search 100 bp 3'