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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:
CA1567112659
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.100006296_100006297delinsTC , CM000667.2:g.100006296_100006297delinsTC
GRCh38
NC_000005.9:g.99342000_99342001delinsTC , CM000667.1:g.99342000_99342001delinsTC
GRCh37
NC_000005.8:g.99369899_99369900delinsTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'