ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463305
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411991
ClinVar RCV Id:
RCV000476155
RCV002356706
RCV004001993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Lys196Glu
CA16611099
NM_000551.4:c.586A>G