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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:
CA2558622346
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17428018_17428019del , CM000664.2:g.17428018_17428019del
GRCh38
NC_000002.11:g.17609285_17609286del , CM000664.1:g.17609285_17609286del
GRCh37
NC_000002.10:g.17472766_17472767del
NCBI36
Search 100 bp 5'
Search 100 bp 3'