ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580228738
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2033082
ClinVar RCV Id:
RCV002885112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Ala152Ser
CA2580068434
NM_001354723.2:c.454G>T