ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827926746
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
827284
ClinVar RCV:
RCV001051596
ClinVar Variation:
847948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Glu70Gln
CA351748955
NM_001354723.2:c.208G>C