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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:
CA1818407992
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127519878_127519879delinsGA , CM000670.2:g.127519878_127519879delinsGA
GRCh38
NC_000008.10:g.128532123_128532124delinsGA , CM000670.1:g.128532123_128532124delinsGA
GRCh37
NC_000008.9:g.128601305_128601306delinsGA
NCBI36
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