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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:
CA2499216389
Gene:
Linked Data
ClinVar Variation Id:
997766
ClinVar RCV Id:
RCV001293323
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10148615_10158450del , CM000665.2:g.10148615_10158450del
GRCh38
NC_000003.11:g.10190299_10200134del , CM000665.1:g.10190299_10200134del
GRCh37
NC_000003.10:g.10165299_10175134del
NCBI36
Search 100 bp 5'
Search 100 bp 3'