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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:
CA2211750350
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.19922330_19922331delinsTG , CM000678.2:g.19922330_19922331delinsTG
GRCh38
NC_000016.9:g.19933652_19933653delinsTG , CM000678.1:g.19933652_19933653delinsTG
GRCh37
NC_000016.8:g.19841153_19841154delinsTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'