ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057247
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625229
ClinVar RCV Id:
RCV000767244
RCV001220559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Ser80Ile
CA16621914
NM_198156.3:c.239G>T