ClinGen Allele Registry
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Canonical Allele Identifier:
PA108470
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000148924
RCV000589801
RCV000698671
RCV001024290
RCV003467207
ClinVar Variation:
161403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Glu186Lys
CA020480
NM_000551.4:c.556G>A