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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:
CA2770550992
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32696021_32696022del , CM000668.2:g.32696021_32696022del
GRCh38
NC_000006.11:g.32663798_32663799del , CM000668.1:g.32663798_32663799del
GRCh37
NC_000006.10:g.32771776_32771777del
NCBI36
Search 100 bp 5'
Search 100 bp 3'