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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:
CA1949563194
Gene:
Linked Data
dbSNP Id:
rs1847510185
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225081_5225082del , CM000673.2:g.5225081_5225082del
GRCh38
NC_000011.9:g.5246311_5246312del , CM000673.1:g.5246311_5246312del
GRCh37
NC_000011.8:g.5202887_5202888del
NCBI36
NG_000007.3:g.72534_72535del
NG_059281.1:g.6990_6991del
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