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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:
CA919774174
Gene:
Linked Data
dbSNP Id:
rs1597358228
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1777813_1777815dup , CM000679.2:g.1777813_1777815dup
GRCh38
NC_000017.10:g.1681107_1681109dup , CM000679.1:g.1681107_1681109dup
GRCh37
NC_000017.9:g.1627857_1627859dup
NCBI36
NG_028180.1:g.20849_20851dup
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