Canonical Allele Identifier: PA658719939
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 496061
ClinVar RCV Id: RCV000588434 RCV004024678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000542.1:p.Val130Phe
CA351753913
NM_000551.4:c.388G>T
CA645524920
NM_000551.4:c.387_388delinsAT