ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573205629
Gene: VHL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Thr132Ile
CA2573136101
NM_001354723.2:c.395C>T