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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:
CA2208348634
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614355_12614357delinsGAT , CM000678.2:g.12614355_12614357delinsGAT
GRCh38
NC_000016.9:g.12708212_12708214delinsGAT , CM000678.1:g.12708212_12708214delinsGAT
GRCh37
NC_000016.8:g.12615713_12615715delinsGAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'