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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:
CA2248779655
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.13721773_13721774delinsAC , CM000679.2:g.13721773_13721774delinsAC
GRCh38
NC_000017.10:g.13625090_13625091delinsAC , CM000679.1:g.13625090_13625091delinsAC
GRCh37
NC_000017.9:g.13565815_13565816delinsAC
NCBI36
Search 100 bp 5'
Search 100 bp 3'