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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:
CA1796404087
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191173_79191179delinsAGCCACC , CM000670.2:g.79191173_79191179delinsAGCCACC
GRCh38
NC_000008.10:g.80103408_80103414delinsAGCCACC , CM000670.1:g.80103408_80103414delinsAGCCACC
GRCh37
NC_000008.9:g.80265963_80265969delinsAGCCACC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745720.1:n.105+802_105+808delinsAGCCACC
Search 100 bp 5'
Search 100 bp 3'