ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA336396
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216478
ClinVar RCV Id:
RCV001317982
RCV003462331
RCV004020464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Ser139Phe
CA336394
NM_000551.4:c.416C>T