ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580556360
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002269204
ClinVar Variation:
1697920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Ser43Tyr
CA70042349
NM_198156.3:c.128C>A