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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:
CA2355449250
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.22587309_22587311delinsCAG , CM000682.2:g.22587309_22587311delinsCAG
GRCh38
NC_000020.10:g.22567947_22567949delinsCAG , CM000682.1:g.22567947_22567949delinsCAG
GRCh37
NC_000020.9:g.22515947_22515949delinsCAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'