ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109242
Gene: VHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
17268
ClinVar RCV:
RCV000002317
RCV000030586
RCV000492250
RCV001071915
ClinVar Variation:
2229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000542.1:p.Val130Leu
CA020325
NM_000551.4:c.388G>C