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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:
CA1893964519
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.18099364_18099365delinsCA , CM000672.2:g.18099364_18099365delinsCA
GRCh38
NC_000010.10:g.18388293_18388294delinsCA , CM000672.1:g.18388293_18388294delinsCA
GRCh37
NC_000010.9:g.18428299_18428300delinsCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'