ClinGen Allele Registry
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Canonical Allele Identifier:
PA916057147
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2226
ClinVar RCV Id:
RCV000002314
RCV000132356
RCV000208872
RCV000475973
RCV000679019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Arg64Pro
CA020089
NM_198156.3:c.191G>C