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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:
CA1086527601
Gene:
Linked Data
dbSNP Id:
rs1765088442
gnomAD v3:
6-18842389-CATCTGTTTGTTTTTA-C
gnomAD v4:
6-18842389-CATCTGTTTGTTTTTA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.18842392_18842406del , CM000668.2:g.18842392_18842406del
GRCh38
NC_000006.11:g.18842623_18842637del , CM000668.1:g.18842623_18842637del
GRCh37
NC_000006.10:g.18950602_18950616del
NCBI36
Search 100 bp 5'
Search 100 bp 3'