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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:
CA1800733861
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88535734_88535735delinsAT , CM000670.2:g.88535734_88535735delinsAT
GRCh38
NC_000008.10:g.89547963_89547964delinsAT , CM000670.1:g.89547963_89547964delinsAT
GRCh37
NC_000008.9:g.89617079_89617080delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745651.2:n.1673+10782_1673+10783delinsAT
XR_001745653.2:n.286-6946_286-6945delinsAT
XR_928383.3:n.1475+10782_1475+10783delinsAT
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