ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830431002
Gene: VHL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Arg164Cys
CA041940
NM_198156.3:c.490C>T