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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:
CA2801317218
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.41333896_41333897insAAAA , CM000676.2:g.41333896_41333897insAAAA
GRCh38
NC_000014.8:g.41803099_41803100insAAAA , CM000676.1:g.41803099_41803100insAAAA
GRCh37
NC_000014.7:g.40872849_40872850insAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'