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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:
CA2499216371
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997724
ClinVar RCV Id:
RCV001293281
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10143181_10152298del , CM000665.2:g.10143181_10152298del
GRCh38
NC_000003.11:g.10184865_10193982del , CM000665.1:g.10184865_10193982del
GRCh37
NC_000003.10:g.10159865_10168982del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.340+994_*2333del
ENST00000256474.3:c.340+994_*2333del
NM_000551.4:c.340+994_*2333del
NM_001354723.2:c.*17+160_*2529del
NM_198156.3:c.340+994_*2333del
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