ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057142
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002315
RCV000585971
RCV000704785
ClinVar Variation:
2227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Leu63Pro
CA020079
NM_198156.3:c.188T>C