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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
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Canonical Allele Identifier:
CA1345064074
Gene: VHL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141540_10141544delinsAGAGT , CM000665.2:g.10141540_10141544delinsAGAGT
GRCh38
NC_000003.11:g.10183224_10183228delinsAGAGT , CM000665.1:g.10183224_10183228delinsAGAGT
GRCh37
NC_000003.10:g.10158224_10158228delinsAGAGT
NCBI36
NG_008212.3:g.4906_4910delinsAGAGT , LRG_322:g.4906_4910delinsAGAGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-308_-304delinsAGAGT
ENSP00000256474.2:n.-308_-304delinsAGAGT
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