ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165461
Gene: VHL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000542.1:p.Pro81Leu
NM_000551.4:c.242C>T