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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:
CA2348216539
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.7000010_7000011delinsGC , CM000682.2:g.7000010_7000011delinsGC
GRCh38
NC_000020.10:g.6980657_6980658delinsGC , CM000682.1:g.6980657_6980658delinsGC
GRCh37
NC_000020.9:g.6928657_6928658delinsGC
NCBI36
Search 100 bp 5'
Search 100 bp 3'