ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499252033
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1060684
ClinVar RCV Id:
RCV001370146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341652.1:p.Phe133Ser
CA2499216362
NM_001354723.2:c.398T>C