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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:
CA1322156513
Gene:
Linked Data
dbSNP Id:
rs1688813063
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203875916del , CM000664.2:g.203875916del
GRCh38
NC_000002.11:g.204740639del , CM000664.1:g.204740639del
GRCh37
NC_000002.10:g.204448884del
NCBI36
NG_011502.1:g.13131del
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