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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:
CA2560489229
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.20455454del , CM000686.2:g.20455454del
GRCh38
NC_000024.9:g.22617340del , CM000686.1:g.22617340del
GRCh37
NC_000024.8:g.21026728del
NCBI36
Search 100 bp 5'
Search 100 bp 3'