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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:
CA1715032792
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.68355062_68355064delinsCAA , CM000669.2:g.68355062_68355064delinsCAA
GRCh38
NC_000007.13:g.67820049_67820051delinsCAA , CM000669.1:g.67820049_67820051delinsCAA
GRCh37
NC_000007.12:g.67457985_67457987delinsCAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'