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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:
CA2813480064
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.7668044_7668050del , CM000681.2:g.7668044_7668050del
GRCh38
NC_000019.9:g.7732930_7732936del , CM000681.1:g.7732930_7732936del
GRCh37
NC_000019.8:g.7638930_7638936del
NCBI36
NG_023447.1:g.3959_3965del
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