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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:
CA2348216505
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6999938_6999939delinsTC , CM000682.2:g.6999938_6999939delinsTC
GRCh38
NC_000020.10:g.6980585_6980586delinsTC , CM000682.1:g.6980585_6980586delinsTC
GRCh37
NC_000020.9:g.6928585_6928586delinsTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'