ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827926929
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000458083
RCV001019385
RCV002269278
RCV002489087
RCV004001987
ClinVar Variation:
411972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Arg108His
CA040275
NM_001354723.2:c.323G>A