ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830430690
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43605
ClinVar RCV Id:
RCV000036549
RCV001023359
RCV001701727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Val125Ala
CA020442
NM_198156.3:c.374T>C