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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:
CA1990855761
Gene:
Linked Data
dbSNP Id:
rs1861124645
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.91151223_91151226del , CM000673.2:g.91151223_91151226del
GRCh38
NC_000011.9:g.90884391_90884394del , CM000673.1:g.90884391_90884394del
GRCh37
NC_000011.8:g.90524039_90524042del
NCBI36
Search 100 bp 5'
Search 100 bp 3'