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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:
CA2557148458
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19703834del , CM000686.2:g.19703834del
GRCh38
NC_000024.9:g.21865720del , CM000686.1:g.21865720del
GRCh37
NC_000024.8:g.20325108del
NCBI36
NG_032920.1:g.46112del
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