ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827926821
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428813
ClinVar RCV Id:
RCV000492467
RCV000631269
RCV000767245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Val84Met
CA351750580
NM_001354723.2:c.250G>A