ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742030592
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2717182
ClinVar RCV:
RCV003300745
ClinVar Variation:
2561023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Leu63Arg
CA351748749
NM_198156.3:c.188T>G