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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:
CA1375303429
Gene:
Linked Data
dbSNP Id:
rs1706227804
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.74734358_74734361del , CM000665.2:g.74734358_74734361del
GRCh38
NC_000003.11:g.74783509_74783512del , CM000665.1:g.74783509_74783512del
GRCh37
NC_000003.10:g.74866199_74866202del
NCBI36
Search 100 bp 5'
Search 100 bp 3'