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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:
CA2518997574
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.5887486del , CM000686.2:g.5887486del
GRCh38
NC_000024.9:g.5755527del , CM000686.1:g.5755527del
GRCh37
NC_000024.8:g.5815527del
NCBI36
Search 100 bp 5'
Search 100 bp 3'