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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:
CA236503095
Gene:
Linked Data
dbSNP Id:
rs34639753
MyVariant Identifiers:
chr12:g.48234853_48234854insT (hg19)
chr12:g.47841070_47841071insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.47841072dup , CM000674.2:g.47841072dup
GRCh38
NC_000012.11:g.48234855dup , CM000674.1:g.48234855dup
GRCh37
NC_000012.10:g.46521122dup
NCBI36
NG_008731.1:g.68961dup
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