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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:
CA1497908103
Gene:
Linked Data
dbSNP Id:
rs1731846197
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.138508768_138508770del , CM000666.2:g.138508768_138508770del
GRCh38
NC_000004.11:g.139429922_139429924del , CM000666.1:g.139429922_139429924del
GRCh37
NC_000004.10:g.139649372_139649374del
NCBI36
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