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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:
CA2081141738
Gene:
Linked Data
dbSNP Id:
rs1884270833
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28658895_28658904del , CM000675.2:g.28658895_28658904del
GRCh38
NC_000013.10:g.29233032_29233041del , CM000675.1:g.29233032_29233041del
GRCh37
NC_000013.9:g.28131032_28131041del
NCBI36
NG_027550.1:g.4892_4901del
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