ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109226
Gene: VHL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Tyr175Asp
CA351756228
NM_000551.4:c.523T>G