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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:
CA1715429879
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147021_69147022delinsGT , CM000669.2:g.69147021_69147022delinsGT
GRCh38
NC_000007.13:g.68612008_68612009delinsGT , CM000669.1:g.68612008_68612009delinsGT
GRCh37
NC_000007.12:g.68249944_68249945delinsGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_927647.1:n.88-896_88-895delinsAC
Search 100 bp 5'
Search 100 bp 3'