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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:
CA2284239400
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.10321379_10321380delinsCT , CM000680.2:g.10321379_10321380delinsCT
GRCh38
NC_000018.9:g.10321376_10321377delinsCT , CM000680.1:g.10321376_10321377delinsCT
GRCh37
NC_000018.8:g.10311376_10311377delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935138.1:n.665+768_665+769delinsAG
XR_001753344.1:n.650+768_650+769delinsAG
XR_001753345.1:n.741_742delinsAG
XR_001753346.1:n.549+768_549+769delinsAG
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