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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:
CA2499216346
Gene:
Linked Data
ClinVar Variation Id:
997754
ClinVar RCV Id:
RCV001293311
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10140738_10142535del , CM000665.2:g.10140738_10142535del
GRCh38
NC_000003.11:g.10182422_10184219del , CM000665.1:g.10182422_10184219del
GRCh37
NC_000003.10:g.10157422_10159219del
NCBI36
NG_008212.3:g.4104_5901del , LRG_322:g.4104_5901del
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