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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:
CA2141801216
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501719_62501726delinsGTATAGGT , CM000676.2:g.62501719_62501726delinsGTATAGGT
GRCh38
NC_000014.8:g.62968437_62968444delinsGTATAGGT , CM000676.1:g.62968437_62968444delinsGTATAGGT
GRCh37
NC_000014.7:g.62038190_62038197delinsGTATAGGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2322_116-2315delinsGTATAGGT
XR_943932.2:n.103-2322_103-2315delinsGTATAGGT
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