ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109069
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182975
ClinVar RCV Id:
RCV000626711
RCV001389259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Ser65Leu
CA020104
NM_000551.4:c.194C>T