ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830430623
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
393565
ClinVar RCV:
RCV000474133
ClinVar Variation:
411955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Leu122Arg
CA16611277
NM_198156.3:c.365T>G