ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300461
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182984
ClinVar RCV Id:
RCV000161093
RCV000200136
RCV002345555
RCV003462112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.His191Pro
CA020500
NM_000551.4:c.572A>C