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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:
CA2530405622
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186682021_186682023del , CM000663.2:g.186682021_186682023del
GRCh38
NC_000001.10:g.186651153_186651155del , CM000663.1:g.186651153_186651155del
GRCh37
NC_000001.9:g.184917776_184917778del
NCBI36
NG_028206.2:g.3409_3411del
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