ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056948
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486722
ClinVar RCV Id:
RCV000563088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Ala18Ser
CA351747273
NM_198156.3:c.52G>T