ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827926724
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000036539
RCV000497340
RCV001219547
RCV002415465
ClinVar Variation:
43597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Ser65Trp
CA020099
NM_001354723.2:c.194C>G