ClinGen Allele Registry
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Canonical Allele Identifier:
PA645463240
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
393224
ClinVar RCV:
RCV000476376
RCV001007624
RCV002349982
RCV003237874
RCV004001991
ClinVar Variation:
411985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Ser183Leu
CA041537
NM_000551.4:c.548C>T