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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:
CA2304988927
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.55195893_55195895delinsCAT , CM000680.2:g.55195893_55195895delinsCAT
GRCh38
NC_000018.9:g.52863124_52863126delinsCAT , CM000680.1:g.52863124_52863126delinsCAT
GRCh37
NC_000018.8:g.51014122_51014124delinsCAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'