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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:
CA2119405534
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.111567102_111567103delinsAC , CM000675.2:g.111567102_111567103delinsAC
GRCh38
NC_000013.10:g.112219449_112219450delinsAC , CM000675.1:g.112219449_112219450delinsAC
GRCh37
NC_000013.9:g.111017450_111017451delinsAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'