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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:
CA2497339839
Gene:
Linked Data
dbSNP Id:
rs1863350853
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.14912898_14912900del , CM000674.2:g.14912898_14912900del
GRCh38
NC_000012.11:g.15065832_15065834del , CM000674.1:g.15065832_15065834del
GRCh37
NC_000012.10:g.14957099_14957101del
NCBI36
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