ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827926947
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2222
ClinVar RCV Id:
RCV000002308
RCV000698407
RCV002321468
RCV003407257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Tyr112His
CA020277
NM_001354723.2:c.334T>C