ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499252049
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1023770
ClinVar RCV Id:
RCV001323871
RCV001810030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Arg160His
CA896160287
NM_001354723.2:c.479G>A