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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:
CA1713101717
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.64272785_64272786delinsGA , CM000669.2:g.64272785_64272786delinsGA
GRCh38
NC_000007.13:g.63733163_63733164delinsGA , CM000669.1:g.63733163_63733164delinsGA
GRCh37
NC_000007.12:g.63370598_63370599delinsGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'