ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827926944
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
17267
ClinVar RCV:
RCV000002316
ClinVar Variation:
2228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Tyr112Asn
CA020273
NM_001354723.2:c.334T>A