ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233380
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019135
ClinVar RCV Id:
RCV001318529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Ser139Pro
CA351754094
NM_000551.4:c.415T>C