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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
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Canonical Allele Identifier:
CA1796404036
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191056_79191060delinsACAGT , CM000670.2:g.79191056_79191060delinsACAGT
GRCh38
NC_000008.10:g.80103291_80103295delinsACAGT , CM000670.1:g.80103291_80103295delinsACAGT
GRCh37
NC_000008.9:g.80265846_80265850delinsACAGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745720.1:n.105+685_105+689delinsACAGT
Search 100 bp 5'
Search 100 bp 3'