ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830430569
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
807494
ClinVar RCV:
RCV001023000
ClinVar Variation:
825149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Lys118Glu
CA351756078
NM_198156.3:c.352A>G