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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:
CA1498866683
Gene:
Linked Data
dbSNP Id:
rs1735954322
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.140572893_140572894del , CM000666.2:g.140572893_140572894del
GRCh38
NC_000004.11:g.141494047_141494048del , CM000666.1:g.141494047_141494048del
GRCh37
NC_000004.10:g.141713497_141713498del
NCBI36
NG_012139.1:g.914_915del
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