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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:
CA919302656
Gene:
Linked Data
dbSNP Id:
rs1566193765
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.73335978del , CM000675.2:g.73335978del
GRCh38
NC_000013.10:g.73910115del , CM000675.1:g.73910115del
GRCh37
NC_000013.9:g.72808116del
NCBI36
Search 100 bp 5'
Search 100 bp 3'