ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805123
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526676
ClinVar RCV Id:
RCV000631272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Leu48Arg
CA039460
NM_000551.4:c.143T>G