ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827926924
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000036542
RCV000763091
RCV002321506
ClinVar Variation:
43599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Arg107Gly
CA020257
NM_001354723.2:c.319C>G