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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:
CA1969324150
Gene:
Linked Data
dbSNP Id:
rs2095859105
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.47330434_47330445del , CM000673.2:g.47330434_47330445del
GRCh38
NC_000011.9:g.47351985_47351996del , CM000673.1:g.47351985_47351996del
GRCh37
NC_000011.8:g.47308561_47308572del
NCBI36
NG_007667.1:g.27260_27271del , LRG_386:g.27260_27271del
NG_029462.1:g.66059_66070del
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