ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830431016
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000461637
RCV002365666
RCV003317228
ClinVar Variation:
411958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Ala166Val
CA16611076
NM_198156.3:c.497C>T