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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:
CA2497339840
Gene:
Linked Data
dbSNP Id:
rs1863351229
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.14912949_14912950insTT , CM000674.2:g.14912949_14912950insTT
GRCh38
NC_000012.11:g.15065883_15065884insTT , CM000674.1:g.15065883_15065884insTT
GRCh37
NC_000012.10:g.14957150_14957151insTT
NCBI36
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