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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:
CA2123181298
Gene:
Linked Data
dbSNP Id:
rs1679163235
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22836359_22836368del , CM000676.2:g.22836359_22836368del
GRCh38
NC_000014.8:g.23305568_23305577del , CM000676.1:g.23305568_23305577del
GRCh37
NC_000014.7:g.22375408_22375417del
NCBI36
NG_046989.1:g.4827_4836del
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