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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:
CA1917875071
Gene:
Linked Data
dbSNP Id:
rs1839612389
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.69611404del , CM000672.2:g.69611404del
GRCh38
NC_000010.10:g.71371160del , CM000672.1:g.71371160del
GRCh37
NC_000010.9:g.71041166del
NCBI36
Search 100 bp 5'
Search 100 bp 3'