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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:
CA2664399709
Gene: VHL
HGNC
NCBI
Linked Data
gnomAD v4:
3-10141658-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10141659del , CM000665.2:g.10141659del
GRCh38
NC_000003.11:g.10183343del , CM000665.1:g.10183343del
GRCh37
NC_000003.10:g.10158343del
NCBI36
NG_008212.3:g.5025del , LRG_322:g.5025del
Transcript Alleles
HGVS
Amino-acid change
ENST00000256474.2:c.-189del
ENSP00000256474.2:n.-189del
NM_000551.3:c.-189del , LRG_322t1:c.-189del
NP_000542.1:n.-189del
NM_198156.2:c.-189del
NP_937799.1:n.-189del
NM_001354723.1:c.-189del
NP_001341652.1:n.-189del
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