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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:
CA1757932373
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.2180501_2180502delinsGA , CM000670.2:g.2180501_2180502delinsGA
GRCh38
NC_000008.9:g.2116111_2116112delinsGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_941356.1:n.112-12434_112-12433delinsGA
XR_941355.2:n.133-3523_133-3522delinsGA
XR_941356.2:n.133-12434_133-12433delinsGA
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