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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:
CA2514795772
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32658493_32658593del , CM000668.2:g.32658493_32658593del
GRCh38
NC_000006.11:g.32626270_32626370del , CM000668.1:g.32626270_32626370del
GRCh37
NC_000006.10:g.32734248_32734348del
NCBI36
Search 100 bp 5'
Search 100 bp 3'