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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:
CA1366201444
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.55279405_55279408delinsGAGC , CM000665.2:g.55279405_55279408delinsGAGC
GRCh38
NC_000003.11:g.55313433_55313436delinsGAGC , CM000665.1:g.55313433_55313436delinsGAGC
GRCh37
NC_000003.10:g.55288473_55288476delinsGAGC
NCBI36
Search 100 bp 5'
Search 100 bp 3'