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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:
CA2562685382
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19448496_19448497insT , CM000686.2:g.19448496_19448497insT
GRCh38
NC_000024.9:g.21610382_21610383insT , CM000686.1:g.21610382_21610383insT
GRCh37
NC_000024.8:g.20069770_20069771insT
NCBI36
Search 100 bp 5'
Search 100 bp 3'