ClinGen Allele Registry
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Canonical Allele Identifier:
PA645463315
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000479035
RCV000823835
RCV001024771
RCV001143974
RCV003401545
RCV003464021
ClinVar Variation:
421558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Arg200Gln
CA041791
NM_000551.4:c.599G>A