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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:
CA2499216338
Gene:
Linked Data
ClinVar Variation Id:
997741
ClinVar RCV Id:
RCV001293298
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10135142_10142466del , CM000665.2:g.10135142_10142466del
GRCh38
NC_000003.11:g.10176826_10184150del , CM000665.1:g.10176826_10184150del
GRCh37
NC_000003.10:g.10151826_10159150del
NCBI36
Search 100 bp 5'
Search 100 bp 3'