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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:
CA917088626
Gene:
Linked Data
dbSNP Id:
rs1553807270
gnomAD v3:
3-186861908-TGC-T
gnomAD v4:
3-186861908-TGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186861909_186861910del , CM000665.2:g.186861909_186861910del
GRCh38
NC_000003.11:g.186579698_186579699del , CM000665.1:g.186579698_186579699del
GRCh37
NC_000003.10:g.188062392_188062393del
NCBI36
Search 100 bp 5'
Search 100 bp 3'