ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891853942
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000686913
RCV002424590
ClinVar Variation:
566960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Gln73Glu
CA70042515
NM_000551.4:c.217C>G