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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:
CA2284269315
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.10382881_10382895delinsGAGTACATACCTAGA , CM000680.2:g.10382881_10382895delinsGAGTACATACCTAGA
GRCh38
NC_000018.9:g.10382878_10382892delinsGAGTACATACCTAGA , CM000680.1:g.10382878_10382892delinsGAGTACATACCTAGA
GRCh37
NC_000018.8:g.10372878_10372892delinsGAGTACATACCTAGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935143.1:n.919+1528_919+1542delinsGAGTACATACCTAGA
Search 100 bp 5'
Search 100 bp 3'