ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830430696
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2216
ClinVar RCV Id:
RCV000002300
RCV000325074
RCV000213850
RCV000506694
RCV000627745
RCV003448242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Arg126Gln
CA020454
NM_198156.3:c.377G>A