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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:
CA1427129773
Gene:
Linked Data
dbSNP Id:
rs1722938441
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186836654_186836656del , CM000665.2:g.186836654_186836656del
GRCh38
NC_000003.11:g.186554443_186554445del , CM000665.1:g.186554443_186554445del
GRCh37
NC_000003.10:g.188037137_188037139del
NCBI36
Search 100 bp 5'
Search 100 bp 3'