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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:
CA2800164178
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.92929465del , CM000675.2:g.92929465del
GRCh38
NC_000013.10:g.93581718del , CM000675.1:g.93581718del
GRCh37
NC_000013.9:g.92379719del
NCBI36
Search 100 bp 5'
Search 100 bp 3'