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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:
CA137040390
Gene:
Linked Data
dbSNP Id:
rs796231291
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32700249_32700250delinsTG , CM000668.2:g.32700249_32700250delinsTG
GRCh38
NC_000006.11:g.32668026_32668027delinsTG , CM000668.1:g.32668026_32668027delinsTG
GRCh37
NC_000006.10:g.32776004_32776005delinsTG
NCBI36
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