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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:
CA1616588413
Gene:
Linked Data
dbSNP Id:
rs1777902208
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24648333dup , CM000668.2:g.24648333dup
GRCh38
NC_000006.11:g.24648561dup , CM000668.1:g.24648561dup
GRCh37
NC_000006.10:g.24756540dup
NCBI36
NG_016206.1:g.2823dup
NG_052787.1:g.23555dup
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