ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057246252
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001220410
ClinVar Variation:
949032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Ser38_Glu52del
CA1139655723
NM_198156.3:c.112_156del