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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:
CA2747109203
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.191590247_191590248del , CM000663.2:g.191590247_191590248del
GRCh38
NC_000001.10:g.191559377_191559378del , CM000663.1:g.191559377_191559378del
GRCh37
NC_000001.9:g.189826000_189826001del
NCBI36
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