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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:
CA2570703295
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31574523del , CM000668.2:g.31574523del
GRCh38
NC_000006.11:g.31542300del , CM000668.1:g.31542300del
GRCh37
NC_000006.10:g.31650279del
NCBI36
NG_007462.1:g.3951del
NG_012010.1:g.7425del
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