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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:
CA2556346319
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.85555389_85555390insT , CM000670.2:g.85555389_85555390insT
GRCh38
NC_000008.10:g.86467618_86467619insT , CM000670.1:g.86467618_86467619insT
GRCh37
NC_000008.9:g.86654870_86654871insT
NCBI36
Search 100 bp 5'
Search 100 bp 3'