ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742030529
Gene: VHL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937799.1:p.Pro40Thr
CA039380
NM_198156.3:c.118C>A