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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:
CA1275004978
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.101897714_101897715delinsCT , CM000664.2:g.101897714_101897715delinsCT
GRCh38
NC_000002.11:g.102514176_102514177delinsCT , CM000664.1:g.102514176_102514177delinsCT
GRCh37
NC_000002.10:g.101880608_101880609delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'