ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830430691
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2224
ClinVar RCV Id:
RCV000002310
RCV000220823
RCV001851578
RCV002288459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Val125Phe
CA020436
NM_198156.3:c.373G>T