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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:
CA1759829043
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.5017693_5017694delinsAT , CM000670.2:g.5017693_5017694delinsAT
GRCh38
NC_000008.10:g.4875215_4875216delinsAT , CM000670.1:g.4875215_4875216delinsAT
GRCh37
NC_000008.9:g.4862623_4862624delinsAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'