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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:
CA1928295418
Gene:
Linked Data
dbSNP Id:
rs1845456323
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.92703150_92703159del , CM000672.2:g.92703150_92703159del
GRCh38
NC_000010.10:g.94462907_94462916del , CM000672.1:g.94462907_94462916del
GRCh37
NC_000010.9:g.94452887_94452896del
NCBI36
Search 100 bp 5'
Search 100 bp 3'