ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827926748
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000036540
RCV000492137
RCV001379599
ClinVar Variation:
43598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Glu70Lys
CA020108
NM_001354723.2:c.208G>A