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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:
CA1282847751
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118939449_118939450delinsTC , CM000664.2:g.118939449_118939450delinsTC
GRCh38
NC_000002.11:g.119697025_119697026delinsTC , CM000664.1:g.119697025_119697026delinsTC
GRCh37
NC_000002.10:g.119413495_119413496delinsTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'