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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:
CA2505230134
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.27723349_27723350insG , CM000673.2:g.27723349_27723350insG
GRCh38
NC_000011.9:g.27744896_27744897insG , CM000673.1:g.27744896_27744897insG
GRCh37
NC_000011.8:g.27701472_27701473insG
NCBI36
NG_011794.1:g.3709_3710insC
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