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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:
CA2005888698
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.123742163_123742165delinsTGA , CM000673.2:g.123742163_123742165delinsTGA
GRCh38
NC_000011.9:g.123612871_123612873delinsTGA , CM000673.1:g.123612871_123612873delinsTGA
GRCh37
NC_000011.8:g.123118081_123118083delinsTGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'