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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:
CA1618524798
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29950248_29950251delinsGTCT , CM000668.2:g.29950248_29950251delinsGTCT
GRCh38
NC_000006.11:g.29918025_29918028delinsGTCT , CM000668.1:g.29918025_29918028delinsGTCT
GRCh37
NC_000006.10:g.30026004_30026007delinsGTCT
NCBI36
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