ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827926769
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000479941
RCV000767237
RCV001201718
ClinVar Variation:
420073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Ile75Ser
CA16617787
NM_001354723.2:c.224T>G