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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:
CA2470052475
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.9894252_9894254delinsCCT , CM000686.2:g.9894252_9894254delinsCCT
GRCh38
NC_000024.9:g.9731861_9731863delinsCCT , CM000686.1:g.9731861_9731863delinsCCT
GRCh37
NC_000024.8:g.10341861_10341863delinsCCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'