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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:
CA2051037321
Gene:
Linked Data
dbSNP Id:
rs1872957822
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.84170202_84170212dup , CM000674.2:g.84170202_84170212dup
GRCh38
NC_000012.11:g.84563981_84563991dup , CM000674.1:g.84563981_84563991dup
GRCh37
NC_000012.10:g.83088112_83088122dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749234.1:n.127+16254_127+16264dup
XR_001749235.1:n.127+16254_127+16264dup
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