ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741867954
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947247
ClinVar RCV Id:
RCV003801437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Thr117Ser
CA2740090911
NM_001354723.2:c.349A>T