ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108229
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2219
ClinVar RCV Id:
RCV000002304
RCV000466046
RCV002336073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Arg167Gly
CA020446
NM_000551.4:c.499C>G