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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:
CA2765041872
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1446554_1446580del , CM000667.2:g.1446554_1446580del
GRCh38
NC_000005.9:g.1446669_1446695del , CM000667.1:g.1446669_1446695del
GRCh37
NC_000005.8:g.1499669_1499695del
NCBI36
NG_015885.1:g.3849_3875del
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